Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.R94G
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KRT17

NM_000422.3:p.R94G

Associated Papers

Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Liu Q et al.

Molecular Medicine Reports, 2015

A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex.

Zang D et al.

European Journal of Dermatology : Ejd, 0

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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."