Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S72F
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GJB1

NM_000166.6:p.S72F

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 2002

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