Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T191A
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GJB1

NM_000166.6:p.T191A

Associated Papers

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Huang Y et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

[X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].

Kobari M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2000

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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."