Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.R58*
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CSTA

NM_005213.4:p.R58*

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

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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."