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

Abstract 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 patie...

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Hlavní autoři:	Vanessa F. Schmidt, Denny Schanze, Richard Brill, Julius H. Loeser, Wibke Uller, Michael Doppler, Özlem Cangir, Susanne Hengst, Veronika Vielsmeier, Maciej Pech, Florian Obereisenbuchner, Mirjam Schirren, Alena Sint, Daniel Puhr-Westerheide, Sinan Deniz, Jakob B. W. Weiß, Beate Häberle, Alexandra Hartel, Alexandra Fröba-Pohl, Julia Haehl, Annegret Holm, Peter B. Sporns, Thomas Scherf, Jens Ricke, Silke Lassmann, Max Seidensticker, Walter A. Wohlgemuth, Melanie A. Kimm, Martin Zenker, Moritz Wildgruber, Friedrich G. Kapp, for the APOLLON Investigators
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2026-04-01
Edice:	BMC Medicine
Témata:	Arteriovenous malformations AVM Mosaicism Pathogenic variants Detection rate
On-line přístup:	https://doi.org/10.1186/s12916-026-04874-0
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