Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.E60Splc
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SLURP1

NM_020427.3:p.E60Splc

Associated Papers

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.

Jafar Hussain HM et al.

Annals of Clinical and Laboratory Science, 2019

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

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

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.

Radiono S et al.

International Journal of Dermatology, 2017

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.

Taylor JA et al.

The Australasian Journal of Dermatology, 2016

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.

Nellen RG et al.

Journal of Dermatological Science, 2015

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

Marrakchi S et al.

The Journal of Investigative Dermatology, 2003

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Eckl KM et al.

Human Genetics, 2003

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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."