Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.Q86*
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CSTA

NM_005213.4:p.Q86*

Associated Papers

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Muttardi K et al.

Clinical and Experimental Dermatology, 2016

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Moosbrugger-Martinz V et al.

The British Journal of Dermatology, 2015

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

Blaydon DC et al.

American Journal of Human Genetics, 2011

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."