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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AQP5

Variant:p.R256Q

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AQP5

NM_001651.4:p.R256Q

hg38:chr12:49965146 G>A

Associated Papers

AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.

Sperelakis-Beedham B et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

36645858 (PubMed )

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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."