Varaico: Literature-Extracted Genetic Variants

Gene:SLURP1
Variant:p.G20Splc
Back to variants list

SLURP1

NM_020427.3:p.G20Splc

Associated Papers

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."