Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.L1131fs
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SKIC2

NM_006929.5:p.L1131fs

Associated Papers

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

Zhang Q et al.

Frontiers in Genetics, 2021

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
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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."