Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.D185D
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CHRNA4

NM_000744.7:p.D185D

Associated Papers

Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.

Jalaiei A et al.

Journal of Neurochemistry, 2025

The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.

Rozycka A et al.

Seizure, 2009

Naturally occurring genetic variability in the nicotinic acetylcholine receptor alpha4 and alpha7 subunit genes and phenotypic diversity in humans and mice.

Stitzel JA

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.

Kawamata J et al.

Journal of Alzheimer's Disease : Jad, 2002

Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.

Picard F et al.

Brain : a Journal of Neurology, 2000

Mutation screening of the CHRNA4 and CHRNB2 nicotinic cholinergic receptor genes in Alzheimer's disease.

Steinlein OK et al.

Neuroreport, 1999

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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."