Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.E144A
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KRT14

NM_000526.5:p.E144A

Associated Papers

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E et al.

Clinical and Experimental Dermatology, 2008

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C et al.

The Journal of Investigative 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

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.

Gu LH et al.

The Journal of Dermatology, 2002

[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

Intermediate filaments in disease.

McLean WH et al.

Current Opinion in Cell Biology, 1995

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Hennies HC et al.

Human Genetics, 1994

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

McLean WH et al.

The Journal of Investigative Dermatology, 1994

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

Hovnanian A et al.

Nature Genetics, 1993

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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."