Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.I389V
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FIG4

NM_014845.6:p.I389V

Associated Papers

A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.

Li M et al.

Molecular Genetics & Genomic Medicine, 2023

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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."