Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V37L
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GJB1

NM_000166.6:p.V37L

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

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

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

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."