Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.R124Q
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GJB5

NM_005268.4:p.R124Q

Associated Papers

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells.

Yusa K et al.

Nature, 2011

21993621 (PubMed )
Supplement: NIHMS36204-supplement-3.pdf

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G et al.

The Journal of Investigative Dermatology, 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."