Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.W35S
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AQP5

NM_001651.4:p.W35S

Associated Papers

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.

Fertitta L et al.

Genes, 2022

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O et al.

International Journal of Molecular Sciences, 2022

AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.

Wang Y et al.

The Journal of Dermatology, 2022

Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5.

Wada Y et al.

The Journal of Dermatology, 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."