Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y157H
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GJB1

NM_000166.6:p.Y157H

Associated Papers

Corrigendum: Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Chu F et al.

Frontiers in Neuroscience, 2023

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Chu F et al.

Frontiers in Neuroscience, 2022

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Li LX et al.

Oncotarget, 2016

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Fu X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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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."