Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R942_K943insGT
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SETBP1

NM_015559.3:p.R942_K943insGT

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

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