Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.G546fs
Back to variants list

SKIC2

NM_006929.5:p.G546fs

Associated Papers

Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.

Zhang Q et al.

Frontiers in Genetics, 2021

An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex.

Zhou D et al.

Cells, 2019

The RNA exosome and RNA exosome-linked disease.

Morton DJ et al.

Rna (new York, N.y.), 2018

29093021 (PubMed )
Supplement: supp_064626.117_Supplemental_Tables_S1-S2.docx

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Eckard SC et al.

Nature Immunology, 2014

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Fabre A et al.

American Journal of Human Genetics, 2012

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."