Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.Q120R
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KRT14

NM_000526.5:p.Q120R

Associated Papers

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K et al.

The British Journal of Dermatology, 2006

Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.

Smith TA et al.

Proteins, 2004

[Keratin diseases].

Jensen PK et al.

Ugeskrift for Laeger, 2000

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB et al.

Ugeskrift for Laeger, 2000

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Sørensen CB et al.

The Journal of Investigative Dermatology, 1999

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

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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."