Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.L1505S
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SKIC3

NM_014639.4:p.L1505S

Associated Papers

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Almes M et al.

Diagnostics (basel, Switzerland), 2022

35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf

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

The RNA exosome and RNA exosome-linked disease.

Morton DJ et al.

Rna (new York, N.y.), 2018

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A et al.

Orphanet Journal of Rare Diseases, 2013

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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."