Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.K1155fs
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SKIC3

NM_014639.4:p.K1155fs

Associated Papers

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

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Wu R et al.

Frontiers in Neurology, 2025

41170324 (PubMed )
Supplement: Data_Sheet_1.XLS › NDD-NPDs

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

Wu R et al.

Orphanet Journal of Rare Diseases, 2024

38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM4_ESM.xls › NDD-NPDs

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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