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Updated: Aug 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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突变的神经元导航3作为一种罕见的神经发育障碍的候选基因

Muhammad Umair1, Meshael Alharbi1, Essra Aloyouni1

  • 1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.

Molecular genetics & genomic medicine
|July 22, 2024
PubMed
概括

神经导航3 (NAV3) 基因中的新型框架转移变异与沙特患者的复杂神经发育障碍 (NDD) 有关. 这一发现将NAV3基因变异与人类NDD联系起来.

关键词:
在NAV3中,NAV3是NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD发育延迟的发展延迟.框架转移变体的变体功能丧失 功能丧失 功能丧失一个新的候选基因.

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