Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.H100Q
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GJB1

NM_000166.6:p.H100Q

Associated Papers

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Karavasilis E et al.

Neuroradiology, 2022

Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.

Kasselimis D et al.

Journal of the International Neuropsychological Society : Jins, 2020

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

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child Neurology, 2016

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Karadima G et al.

Journal of the Neurological Sciences, 2014

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O et al.

Audiology & Neuro-otology, 2010

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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."