Varaico: Literature-Extracted Genetic Variants

Gene:LGI4
Variant:p.A265T
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LGI4

NM_139284.3:p.A265T

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue S et al.

American Journal of Human Genetics, 2017

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