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Article

Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway.

Human mutation - 1 Feb 2014

Paré-Brunet Laia, Glubb Dylan, Evans Patrick, Berenguer-Llergo Antoni, Etheridge Amy S, Skol Andrew D, Di Rienzo Anna, Duan Shiwei, Gamazon Eric R, Innocenti Federico

Abstract excerpt

Angiogenesis is a host-mediated mechanism in disease pathophysiology. The vascular endothelial growth factor (VEGF) pathway is a major determinant of angiogenesis, and a comprehensive annotation of the functional variation in this pathway is essential to understand the genetic basis of angiogenesis-related diseases. We assessed the allelic heterogeneity of gene expression, population specificity of cis expression...

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Source

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Identifiers

PMID: 24186849
DOI: 10.1002/humu.22475
PMCID: PMC3935516

Genes

KRAS
PRKCE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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