Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations

Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations

<b>Background/Objectives:</b> Brain arteriovenous malformations (bAVMs) are rare vascular anomalies characterized by direct connections between arteries and veins, bypassing the capillary network. This study aimed to identify potential genetic factors contributing to the development of s...

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Main Authors: Elena Zholdybayeva, Ayazhan Bekbayeva, Karashash Menlibayeva, Alua Gusmaulemova, Botakoz Kurentay, Bekbolat Tynysbekov, Almas Auganov, Ilyas Akhmetollayev, Chingiz Nurimanov
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomedicines
Subjects:
brain arteriovenous malformation
exome sequencing
mutation
candidate genes
enrichment analysis
Online Access:https://www.mdpi.com/2227-9059/13/6/1451
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