Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.R329W
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GNAL

NM_182978.4:p.R329W

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling.

Masuho I et al.

Cell Reports, 2018

30021154 (PubMed )
Supplement: mmc2.pdf

Update on the Genetics of Dystonia.

Lohmann K et al.

Current Neurology and Neuroscience Reports, 2017

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Masuho I et al.

Neurology. Genetics, 2016

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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."