Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S138N
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GJB1

NM_000166.6:p.S138N

Associated Papers

Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.

Rautenstrauss B et al.

Human Genetics, 2007

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K et al.

Human Mutation, 2003

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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."