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A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder

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Year: 2022
Type: article
Source: Neurogenetics
DOI: 10.1007/s10048-022-00692-7
Authors: Asmat Ullah, Jai Krishin, Nighat Haider, Brekhna Aurangzeb, Abdullah, Sufyan Suleman, Wasim Ahmad, Torben Hansen, Sulman Basit
Institutions: University of Copenhagen, Novo Nordisk Foundation Center for Basic Metabolic Research, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan Institute of Medical Sciences, Quaid-i-Azam University, Taibah University
Language: English

Topic: Genetics and Neurodevelopmental Disorders
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W4224253696
FWCI: 0.734
Cites: 19
Cited by: 8
Related to: 10
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