Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.C367fs
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SPINK5

NM_006846.4:p.C367fs

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

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.

Wang Y et al.

Frontiers in Genetics, 2022

Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.

Konishi T et al.

The Journal of Dermatology, 2014

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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."