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Article

Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort study.

BMC medicine - 16 Apr 2026

Schmidt Vanessa F, Schanze Denny, Brill Richard, Loeser Julius H, Uller Wibke, Doppler Michael, Cangir Özlem, Hengst Susanne, Vielsmeier Veronika, Pech Maciej, Obereisenbuchner Florian, Schirren Mirjam, Sint Alena, Puhr-Westerheide Daniel, Deniz Sinan, Weiß Jakob B W, Häberle Beate, Hartel Alexandra, Fröba-Pohl Alexandra, Haehl Julia, Holm Annegret, Sporns Peter B, Scherf Thomas, Ricke Jens, Lassmann Silke, Seidensticker Max, Wohlgemuth Walter A, Kimm Melanie A, Zenker Martin, Wildgruber Moritz, Kapp Friedrich G

Abstract excerpt

BACKGROUND: This study aimed to assess the detection rate and spectrum of pathogenic variants (PVs) and candidate variants (variants of uncertain significance, VUS) in AVM patients. METHODS: In this retrospective multicenter cohort study, tissue and blood samples were collected from 114 patients with extracranial AVMs during treatment or when clinically indicated, for dedicated molecular genetic analyses. PVs...

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Identifiers

PMID: 41987212
DOI: 10.1186/s12916-026-04874-0
PMCID: PMC13085549

Genes

BRAF
MAP2K1
HRAS
KRAS
PTEN
RASA1
EPHB4
GNA14
GNAQ
PIK3CA
RAF1
RIT1
SOS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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