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Article

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2008

Richards C Sue, Bale Sherri, Bellissimo Daniel B, Das Soma, Grody Wayne W, Hegde Madhuri R, Lyon Elaine, Ward Brian E

Abstract excerpt

ACMG previously developed recommendations for standards for interpretation of sequence variations. We now present the updated revised recommendations. Here, we describe six interpretative categories of sequence variations: (1) sequence variation is previously reported and is a recognized cause of...

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PMID: 18414213
DOI: 10.1097/GIM.0b013e31816b5cae

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18414213-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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