Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.N123Y
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AQP5

NM_001651.4:p.N123Y

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

Palmoplantar keratoderma Bothnia type with acrokeratoelastoidosis-like features due to AQP5 mutations.

Pan Y et al.

Clinical and Experimental Dermatology, 2019

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Cao X et al.

The Journal of Investigative Dermatology, 2014

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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."