Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5
Variant:p.Y440*
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SPINK5

NM_006846.4:p.Y440*

Associated Papers

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."