Varaico: Literature-Extracted Genetic Variants

Gene:KRT13
Variant:p.L119P
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KRT13

NM_153490.3:p.L119P

Associated Papers

White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.

Qiao Y et al.

Genes, 2022

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Dharmadhikari AV et al.

Genome Medicine, 2019

Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus.

Westin M et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2018

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Current approaches to the diagnosis and treatment of white sponge nevus.

Cai W et al.

Expert Reviews in Molecular Medicine, 2015

Keratin 13 mutations associated with oral white sponge nevus in two Chinese families.

Cai W et al.

Meta Gene, 2014

Mutational analysis in familial and sporadic patients with white sponge naevus.

Liu X et al.

The British Journal of Dermatology, 2011

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.

Nishizawa A et al.

The British Journal of Dermatology, 2008

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

Rugg E et al.

Oral Diseases, 1999

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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."