Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.I196V
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GJB5

NM_005268.4:p.I196V

Associated Papers

Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma.

Utsumi D et al.

The Journal of Dermatology, 2013

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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."