Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.H523delFs
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SETBP1

NM_015559.3:p.H523delFs

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

SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.

Oyler HO et al.

Clinical Genetics, 2024

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

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

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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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."