Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.R65Q
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BRSK2

NM_001256627.2:p.R65Q

Associated Papers

Role and Impact of the brsk2 Gene in Zebrafish Retinal Development and Visual Function Characterized by Behavioral, Histological, and Transcriptomic Analyses.

Deng J et al.

International Journal of Molecular Sciences, 2026

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.

Bacchelli E et al.

Research Square, 2023

Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy.

Hu Y et al.

Frontiers in Psychiatry, 2023

37671287 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Deleterious Variation in BR Serine/Threonine Kinase 2 Classified a Subtype of Autism.

Deng J et al.

Frontiers in Molecular Neuroscience, 2022

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Beck DB et al.

Science Advances, 2021

33523931 (PubMed )
Supplement: abe2116_Table_S1.xlsx › Sheet1

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Hiatt SM et al.

American Journal of Human Genetics, 2019

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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."