Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.K484_A485Splc
Back to variants list

SKIC3

NM_014639.4:p.K484_A485Splc

Associated Papers

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Bourgeois P et al.

Human Mutation, 2018

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

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."