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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Wang, Yalan, Qin, Yue, Peng, Rui, Wang, Hongyan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2021
Gaiak:
Sarrera elektronikoa: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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