Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.A1143fs
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SKIC3

NM_014639.4:p.A1143fs

Associated Papers

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Narishige Y et al.

Frontiers in Immunology, 2026

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.

Chen CB et al.

The Journal of Pediatrics, 2023

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

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."