Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
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
37798664 (PubMed )
Supplement: 12920_2023_1649_MOESM1_ESM.xlsx › Table_3_overall_data
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A et al.
European Journal of Human Genetics : Ejhg, 2021
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