Varaico: Literature-Extracted Genetic Variants

Gene:KLK5
Variant:p.W80insFs
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KLK5

NM_012427.5:p.W80insFs

Associated Papers

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA et al.

Molecular Diagnosis & Therapy, 2017

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.

Descargues P et al.

The Journal of Investigative Dermatology, 2006

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Bitoun E et al.

The Journal of Investigative Dermatology, 2002

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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."