Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.A197V
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GJB1

NM_000166.6:p.A197V

Associated Papers

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Park J et al.

Molecular Genetics & Genomic Medicine, 2019

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Hu G et al.

Clinical Neurology and Neurosurgery, 2019

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Lu YY et al.

Chinese Medical Journal, 2017

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

Kim Y et al.

Clinical Genetics, 2012

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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."