Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.F141delFs
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GJB1

NM_000166.6:p.F141delFs

Associated Papers

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.

Chen B et al.

Clinical Neurology and Neurosurgery, 2019

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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."