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Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23642
Abstract: The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendations for stand‐alone rule…
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Keywords:
recommendation benign;
stand alone;
acmg amp;
updated recommendation ... See more keywords