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Godley, Lucy
One or more keywords matched the following items that are connected to Godley, Lucy
Item TypeName
Concept Core Binding Factor Alpha 2 Subunit
Academic Article Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
Academic Article Inherited predisposition to acute myeloid leukemia.
Academic Article Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
Academic Article Mutant RUNX1 and histone tales.
Academic Article Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis.
Academic Article ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Academic Article How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Academic Article RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Academic Article Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.
Academic Article The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Academic Article Revision of RUNX1 variant curation rules.
Academic Article Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
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  • Core Binding Factor Alpha 1 Subunit