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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT6A

Variant:p.L468R

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KRT6A

NM_005554.4:p.L468R

hg38:chr12:52488349 A>C

Associated Papers

Pachyonychia congenita responding favorably to a combination of surgical and medical therapies.

Daroach M et al.

Dermatologic Therapy, 2019

31364784 (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."