Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R416delFs
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KRT14

NM_000526.5:p.R416delFs

Associated Papers

Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.

Titeux M et al.

The Journal of Investigative Dermatology, 2006

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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."