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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT16

Variant:p.M14I

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KRT16

NM_005557.4:p.M14I

hg38:chr17:41612647 C>A

Associated Papers

A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.

Wang S et al.

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

36149327 (PubMed )

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