Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S128*
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GJB1

NM_000166.6:p.S128*

Associated Papers

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N et al.

Brain : a Journal of Neurology, 2003

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

Yoshihara T et al.

Human Mutation, 2000

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

Gerding WM et al.

Molecular and Cellular Probes, 0

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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."