Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.A80fs
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SPINK5

NM_006846.4:p.A80fs

Associated Papers

Severe Hypernatremia as Presentation of Netherton Syndrome.

Di Nora A et al.

Global Medical Genetics, 2023

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

Wang Y et al.

Frontiers in Genetics, 2022

Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

Schepis C et al.

Dermatology Online Journal, 2019

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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."