Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.V7A
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KRT5

NM_000424.4:p.V7A

Associated Papers

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.

Bchetnia M et al.

The Crispr Journal, 2022

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.

Galligan P et al.

The Journal of Investigative Dermatology, 1998

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