| Item Type | Name |
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Concept
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Mutation
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Concept
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Germ-Line Mutation
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Concept
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Point Mutation
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Concept
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Mutation, Missense
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Concept
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Mutation Rate
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Concept
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INDEL Mutation
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Academic Article
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Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
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Academic Article
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Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.
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Academic Article
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Optineurin mutations in Japanese amyotrophic lateral sclerosis.
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Academic Article
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Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators.
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Academic Article
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Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.
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Academic Article
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Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.
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Academic Article
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A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities.
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Academic Article
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Critical roles of LGN/GPSM2 phosphorylation by PBK/TOPK in cell division of breast cancer cells.
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Academic Article
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Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese.
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Academic Article
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Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.
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Academic Article
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Critical role of lysine 134 methylation on histone H2AX for ?-H2AX production and DNA repair.
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Academic Article
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Crosstalk of EDA-A2/XEDAR in the p53 signaling pathway.
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Academic Article
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Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survival.
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Academic Article
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Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.
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Academic Article
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Deficiency of GMDS leads to escape from NK cell-mediated tumor surveillance through modulation of TRAIL signaling.
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Academic Article
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Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study.
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Academic Article
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Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools.
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Academic Article
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Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
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Academic Article
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Association of PTEN mutation with HPV-negative adenocarcinoma of the uterine cervix.
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Academic Article
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Identification of p53-46F as a super p53 with an enhanced ability to induce p53-dependent apoptosis.
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Academic Article
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Functional impact of IgA nephropathy-associated selectin gene haplotype on leukocyte-endothelial interaction.
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Academic Article
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Heterozygous TGFBR2 mutations in Marfan syndrome.
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Academic Article
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International network of cancer genome projects.
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Academic Article
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Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.
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Academic Article
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Identification of pigment epithelium-derived factor as a direct target of the p53 family member genes.
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Academic Article
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Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.
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Academic Article
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The NSD family of protein methyltransferases in human cancer.
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Academic Article
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T-LAK cell-originated protein kinase presents a novel therapeutic target in FLT3-ITD mutated acute myeloid leukemia.
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Academic Article
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Mutated G-protein-coupled receptor GPR10 is responsible for the hyperphagia/dyslipidaemia/obesity locus of Dmo1 in the OLETF rat.
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Academic Article
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
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Academic Article
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Germline PARP4 mutations in patients with primary thyroid and breast cancers.
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Academic Article
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Cystatin C as a p53-inducible apoptotic mediator that regulates cathepsin L activity.
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Academic Article
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Eradication of Large Solid Tumors by Gene Therapy with a T-Cell Receptor Targeting a Single Cancer-Specific Point Mutation.
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Academic Article
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Afatinib Activity in Platinum-Refractory Metastatic Urothelial Carcinoma in Patients With ERBB Alterations.
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Academic Article
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Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.
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Academic Article
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Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss.
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Academic Article
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Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
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Academic Article
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Loss of BRCA1 in the Cells of Origin of Ovarian Cancer Induces Glycolysis: A Window of Opportunity for Ovarian Cancer Chemoprevention.
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Academic Article
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Integrated analysis of somatic mutations and immune microenvironment in malignant pleural mesothelioma.
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Academic Article
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Integrated analysis of somatic mutations and immune microenvironment of multiple regions in breast cancers.
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Academic Article
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Low T-cell Receptor Diversity, High Somatic Mutation Burden, and High Neoantigen Load as Predictors of Clinical Outcome in Muscle-invasive Bladder Cancer.
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Academic Article
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Induction of Neoantigen-Specific Cytotoxic T Cells and Construction of T-cell Receptor-Engineered T Cells for Ovarian Cancer.
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Academic Article
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Integrated analysis of somatic mutations and immune microenvironment of multiple regions in breast cancers.
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Academic Article
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The role of protein methyltransferases as potential novel therapeutic targets in squamous cell carcinoma of the head and neck.
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Academic Article
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Immunopharmacogenomics towards personalized cancer immunotherapy targeting neoantigens.
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Academic Article
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Breast cancer: The translation of big genomic data to cancer precision medicine.
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Academic Article
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Significant differences in T cell receptor repertoires in lung adenocarcinomas with and without epidermal growth factor receptor mutations.
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Academic Article
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Clinical significance of gene mutation in ctDNA analysis for hormone receptor-positive metastatic breast cancer.
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Academic Article
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Cooperation of genes in HPV16 E6/E7-dependent cervicovaginal carcinogenesis trackable by endoscopy and independent of exogenous estrogens or carcinogens.
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Academic Article
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Bioinformatic prediction of potential T cell epitopes for SARS-Cov-2.
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Academic Article
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Clinical significance of clonal hematopoiesis in the interpretation of blood liquid biopsy.
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Academic Article
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Plasma or Serum: Which Is Preferable for Mutation Detection in Liquid Biopsy?
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Academic Article
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SARS-CoV-2 genomic variations associated with mortality rate of COVID-19.
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Academic Article
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CD8 lymphocytes in tumors and nonsynonymous mutational load correlate with prognosis of bladder cancer patients treated with immune checkpoint inhibitors.
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Academic Article
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Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome.
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Academic Article
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A cross-population atlas of genetic associations for 220 human phenotypes.
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Academic Article
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Serial circulating tumor DNA monitoring of CDK4/6 inhibitors response in metastatic breast cancer.
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Academic Article
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Tumor-Informed Approach Improved ctDNA Detection Rate in Resected Pancreatic Cancer.
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