Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.T501delFs
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BRSK2

NM_001256627.2:p.T501delFs

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

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
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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."