Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.A22D
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SLURP1

NM_020427.3:p.A22D

Associated Papers

A mechano-resistance mechanism in skin adapts to terrestrial locomotion.

Di R et al.

Cell, 2025

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.

Jiang X et al.

The British Journal of Dermatology, 2025

Expanding the SLURP1 disease spectrum: from Mal de Meleda to palmoplantar keratoderma/progressive symmetric erythrokeratoderma.

Takeichi T et al.

The British Journal of Dermatology, 2025

A signal peptide variant in SLURP1 with dominant-negative effect causes progressive symmetric erythrokeratodermia.

Gong Z et al.

Journal of Dermatological Science, 2025

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

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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."