Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I137V
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GJB1

NM_000166.6:p.I137V

Associated Papers

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S et al.

Human Genetics, 1997

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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."