Varaico: Literature-Extracted Genetic Variants

Gene:KDM5B
Variant:p.R606*
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KDM5B

NM_001314042.2:p.R606*

Associated Papers

de novo KDM5B Mutation in a Patient with Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Case Report.

Sabetfakhri NP et al.

Journal of Mood and Anxiety Disorders, 2025

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Borroto MC et al.

Genes, 2024

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

Abdi M et al.

Genome Medicine, 2023

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
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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."