Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.E401K
Back to variants list

SKIC2

NM_006929.5:p.E401K

Associated Papers

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Albar RF et al.

Cureus, 2021

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Alsaleem BM et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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

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."