Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.K824_E825Fs
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SPINK5

NM_006846.4:p.K824_E825Fs

Associated Papers

The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.

Xu M et al.

Frontiers in Genetics, 2025

39931731 (PubMed )
Supplement: Table1.xlsx › Table_S1

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA et al.

Molecular Diagnosis & Therapy, 2017

'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome.

Goujon E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010

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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."