Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.V833delFs
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SKIC2

NM_006929.5:p.V833delFs

Associated Papers

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › SCC

Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.

Zhang Q et al.

Frontiers in Genetics, 2021

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

Bourgeois P et al.

Human Mutation, 2018

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."