Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.K22*
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CSTA

NM_005213.4:p.K22*

Associated Papers

Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases.

Sarika GM et al.

Pediatric Dermatology, 2021

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Muttardi K et al.

Clinical and Experimental Dermatology, 2016

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Krunic AL et al.

Pediatric Dermatology, 0

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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."