Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.R570*
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SKIC3

NM_014639.4:p.R570*

Associated Papers

Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary.

Zhu Y et al.

Sage Open Medical Case Reports, 2024

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

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

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A et al.

Orphanet Journal of Rare Diseases, 2013

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."