Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53
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DOI: 10.1002/humu.23972
Abstract: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant classification are widely used for clinical interpretation of gene test results. These guidelines may be specified to genes/syndromes of interest… read more here.
Keywords: phenotype related; variant classification; acmg amp; gene ... See more keywords