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Connective Tissue Diseases; Exome; Genes, Dominant; High-Throughput Nucleotide Sequencing; Membrane Glycoproteins
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Amino Acid Sequence; Animals; Biopsy; Cell Line; Cluster Analysis; Computational Biology; DNA Mutational Analysis; Female; Gene Expression; Humans; Magnetic Resonance Imaging; Male; Mice; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Sequence Alignment; Skin
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information resource reference
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat. 2016 Jan; 37(1):84-97.
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
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