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Article

Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects.

Molecular genetics & genomic medicine - 1 Feb 2021

Wang Yalan, Qin Yue, Peng Rui, Wang Hongyan

Abstract excerpt

BACKGROUND: Neural tube defects (NTDs) are severe birth defects resulting from the failure of neural tube closure during embryogenesis. Both genetic and environmental factors contribute to the occurrence of NTDs and the heritability of NTDs is approximately 70%. As a key component of focal adhesions, Vinculin (VCL) plays pivotal roles in cell skeleton remodeling and signal transduction. Vcl deficient mice...

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Identifiers

PMID: 33491343
DOI: 10.1002/mgg3.1563
PMCID: PMC8077129

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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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