Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P70S
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GJB1

NM_000166.6:p.P70S

Associated Papers

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I et al.

Journal of Neurology, 2019

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.

Karadima G et al.

Journal of Neurology, 2006

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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."