Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R625*
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SETBP1

NM_015559.3:p.R625*

Associated Papers

Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".

Unknown Author

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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

Autism spectrum disorder and various mechanisms behind it.

Rajabi P et al.

Pharmacology, Biochemistry, and Behavior, 2024

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

Ilic N et al.

Genes, 2024

38927725 (PubMed )
Supplement: genes-15-00789-s001.zip › genes-3017928-supplementary.pdf

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

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_MOESM10_ESM.xlsx › Supplementary_Data_8

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP et al.

Nature Genetics, 2014

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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."