Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1G
Variant:p.I1273F
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CACNA1G

NM_018896.5:p.I1273F

Associated Papers

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.

Son H et al.

Journal of Movement Disorders, 2023

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

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Casas-Alba D et al.

American Journal of Medical Genetics. Part A, 2021

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

Kunii M et al.

Journal of the Neurological Sciences, 2020

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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."