Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.E1088*
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SKIC2

NM_006929.5:p.E1088*

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

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.

Xinias I et al.

Sage Open Medical Case Reports, 2018

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

Hiejima E et al.

Medicine, 2017

SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.

Tomecki R et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."