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Article

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2013

Hickey Scott E, Curry Cynthia J, Toriello Helga V

Abstract excerpt

MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart dise...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23288205
DOI: 10.1038/gim.2012.165

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23288205-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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