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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT6A

Variant:p.Y465D

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KRT6A

NM_005554.4:p.Y465D

hg38:chr12:52488359 A>C

Associated Papers

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

Ren Y et al.

American Journal of Medical Genetics. Part A, 2026

41744052 (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."