Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.T52A
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SLURP1

NM_020427.3:p.T52A

Associated Papers

Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis.

Shulepko MA et al.

The Journal of Investigative Dermatology, 2021

Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly-6/uPAR-related protein 1.

Kunisada M et al.

The Journal of Dermatology, 2019

A functional GTPase domain, but not its transmembrane domain, is required for function of the SRP receptor beta-subunit.

Ogg SC et al.

The Journal of Cell Biology, 1998

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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."