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Article

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.

Neurogenetics - 1 Jul 2022

Ullah Asmat, Krishin Jai, Haider Nighat, Aurangzeb Brekhna, Abdullah, Suleman Sufyan, Ahmad Wasim, Hansen Torben, Basit Sulman

Abstract excerpt

Human exocyst complex is an evolutionary conserved multimeric complex composed of proteins encoded by eight genes EXOC1-EXOC8. It is known that the exocyst complex plays a role in ciliogenesis, cytokinesis, cell migration, autophagy, and fusion of secretory vesicles. Recently, loss of function variants in EXOC7 and EXOC8 has been associated with abnormalities of cerebral cortical development leading to a...

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PMID: 35460391
DOI: 10.1007/s10048-022-00692-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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