Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.C28fs
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SLURP1

NM_020427.3:p.C28fs

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Harjama L et al.

Acta Dermato-venereologica, 2020

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar A et al.

Bmc Medical Genetics, 2019

31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx
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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."