Varaico: Literature-Extracted Genetic Variants

Gene:LGI4
Variant:p.V434D
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LGI4

NM_139284.3:p.V434D

Associated Papers

Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.

Booth DG et al.

Glia, 2021

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."