Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.D322_G323insFs
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SPINK5

NM_006846.4:p.D322_G323insFs

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 SPINK5 donor splice site variant in a child with Netherton syndrome.

Mintoff D et al.

Molecular Genetics & Genomic Medicine, 2021

A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.

Mizuno Y et al.

Clinical and Experimental Dermatology, 2006

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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."