Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.R222*
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BRSK2

NM_001256627.2:p.R222*

Associated Papers

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

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

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

Deng J et al.

Frontiers in Molecular Neuroscience, 2022

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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."