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Article

The role of clinical response to treatment in determining pathogenicity of genomic variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021

Shen Joseph J, Wortmann Saskia B, de Boer Lonneke, Kluijtmans Leo A J, Huigen Marleen C D G, Koch Johannes, Ross Stephanie, Collins Christin D, van der Lee Robin, van Karnebeek Clara D M, Hegde Madhuri R

Abstract excerpt

PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants provide a framework to standardize terminology in the classification of variants uncovered through genetic testing. We aimed to assess the validity of utilizing clinical response to therapies specifically targeted to a suspected disease in...

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PMID: 33087887
DOI: 10.1038/s41436-020-00996-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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