Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.K824_E825delFs
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SPINK5

NM_006846.4:p.K824_E825delFs

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

Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report.

AlMoosawi S et al.

Cureus, 2024

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

Bellon N et al.

The British Journal of Dermatology, 2021

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

Mintoff D et al.

Molecular Genetics & Genomic Medicine, 2021

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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."