Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.L1485R
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SKIC3

NM_014639.4:p.L1485R

Associated Papers

The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism.

Kögel A et al.

Molecular Cell, 2022

35120588 (PubMed )
Supplement: mmc2.pdf

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

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Lee WI et al.

Medicine, 2016

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A et al.

Orphanet Journal of Rare Diseases, 2013

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

Fabre A et al.

Human Mutation, 2011

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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