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Article

Genome-wide association study of sporadic brain arteriovenous malformations.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2016

Weinsheimer Shantel, Bendjilali Nasrine, Nelson Jeffrey, Guo Diana E, Zaroff Jonathan G, Sidney Stephen, McCulloch Charles E, Al-Shahi Salman Rustam, Berg Jonathan N, Koeleman Bobby P C, Simon Matthias, Bostroem Azize, Fontanella Marco, Sturiale Carmelo L, Pola Roberto, Puca Alfredo, Lawton Michael T, Young William L, Pawlikowska Ludmila, Klijn Catharina J M, Kim Helen

Abstract excerpt

BACKGROUND: The pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unknown, but studies suggest a genetic component. We estimated the heritability of sporadic BAVM and performed a genome-wide association study (GWAS) to investigate association of common single nucleotide polymorphisms (SNPs) with risk of sporadic BAVM in the international, multicentre Genetics of Arteriovenous Malformation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26818729
DOI: 10.1136/jnnp-2015-312272
PMCID: PMC4963303

Genes

ACVRL1
BNC2
CDKAL1
JAG1
MMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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