Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.T125A
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CHRNA2

NM_000742.4:p.T125A

Associated Papers

A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.

Chu X et al.

Iranian Journal of Public Health, 2022

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Becchetti A et al.

Brain Sciences, 2020

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.

Chen Z et al.

International Journal of Clinical and Experimental Medicine, 2015

Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.

Wang S et al.

Human Genetics, 2014

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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."