Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.K331del1
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BRSK2

NM_001256627.2:p.K331del1

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

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

Deng J et al.

Frontiers in Molecular Neuroscience, 2022

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.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."