Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.L314_V315insFs
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SETBP1

NM_015559.3:p.L314_V315insFs

Associated Papers

Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review.

Wei Z et al.

Frontiers in Genetics, 2025

40144891 (PubMed )
Supplement: Table1.xlsx › cases

Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay.

Pan J et al.

Frontiers in Genetics, 2025

Novel SETBP1 mutation in a chinese family with intellectual disability.

Wang L et al.

Bmc Medical Genomics, 2023

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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