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Article

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Clinical genetics - 1 May 2011

Champion K J, Bunag C, Estep A L, Jones J R, Bolt C H, Rogers R C, Rauen K A, Everman D B

Abstract excerpt

BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio-facio-cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600...

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Source

Identifiers

PMID: 20735442
DOI: 10.1111/j.1399-0004.2010.01495.x

Genes

BRAF

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20735442-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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