Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R6delFs
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KRT14

NM_000526.5:p.R6delFs

Associated Papers

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.

Burger B et al.

The British Journal of Dermatology, 2019

Updated review of genetic reticulate pigmentary disorders.

Zhang J et al.

The British Journal of Dermatology, 2017

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J et al.

American Journal of Human Genetics, 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."