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 Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.

Xiang R et al.

Acta Dermato-venereologica, 2025

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

Xu M et al.

Frontiers in Genetics, 2025

Novel splice site mutation at the C-terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis.

Hua S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

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

Wang Y et al.

Frontiers in Genetics, 2022

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Huang Z et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

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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."