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Article

A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2022

Feurstein Simone, Hahn Christopher N, Mehta Nikita, Godley Lucy A

Abstract excerpt

PURPOSE: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for germline variant interpretation are implemented as a broad framework by standardizing variant interpretation. These rules were designed to be specified, but this process has not been performed for most of the 200 genes associated with inherited hematopoietic malignancies, bone marrow failure,...

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Identifiers

PMID: 35063349
DOI: 10.1016/j.gim.2021.12.008

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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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