Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.R71C
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SLURP1

NM_020427.3:p.R71C

Associated Papers

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.

Wang T et al.

Bmc Medical Genomics, 2023

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

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

Radiono S et al.

International Journal of Dermatology, 2017

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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."