Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y211H
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GJB1

NM_000166.6:p.Y211H

Associated Papers

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.

Koutsis G et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

X-linked Charcot-Marie-Tooth disease and multiple sclerosis.

Parman Y et al.

Journal of Neurology, 2007

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C et al.

Clinical Genetics, 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."