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

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...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Wang, Yalan, Qin, Yue, Peng, Rui, Wang, Hongyan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2021
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077129/
https://ncbi.nlm.nih.gov/pubmed/33491343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1563
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