Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.R2349*
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ASPM

NM_018136.5:p.R2349*

Associated Papers

Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.

Nurminen R et al.

Scientific Reports, 2024

38773237 (PubMed )
Supplement: 41598_2024_62296_MOESM2_ESM.xlsx › Supplementary_Table_6

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
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