Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1G
Variant:p.L909F
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CACNA1G

NM_018896.5:p.L909F

Associated Papers

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.

Liu D et al.

Nature Genetics, 2023

36914870 (PubMed )
Supplement: 41588_2023_1305_MOESM4_ESM.xlsx › Supplementary_Table_8

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Ehtesham N et al.

Archives of Iranian Medicine, 2022

37543906 (PubMed )
Supplement: aim-25-788-s002.xlsx › Table_S1.7

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.

Berecki G et al.

International Journal of Molecular Sciences, 2020

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Ware TL et al.

Epilepsia Open, 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."