Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.Q52fs
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SPINK5

NM_006846.4:p.Q52fs

Associated Papers

SPINK5 variants drive clinical variability in Netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomes.

Yorgun Altunbas M et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

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

Interleukin-36 Is Highly Expressed in Skin Biopsies from Two Patients with Netherton Syndrome.

Pawlowski J et al.

Dermatopathology (basel, Switzerland), 2024

2-year-old girl with severe eczema and brittle hair.

Unknown Author

Journal of Paediatrics and Child Health, 2023

Biological treatments for pediatric Netherton syndrome.

Pontone M et al.

Frontiers in Pediatrics, 2022

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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."