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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT16

Variant:p.R127L

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KRT16

NM_005557.4:p.R127L

hg38:chr17:41612309 C>A

Associated Papers

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.

Noda T et al.

The Journal of Dermatology, 2024

38963306 (PubMed )

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