Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.V137M
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GNAL

NM_001142339.3:p.V137M

Associated Papers

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Gómez-Garre P et al.

European Journal of Neurology, 2021

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Carecchio M et al.

Parkinsonism & Related Disorders, 2016

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Mutations in GNAL cause primary torsion dystonia.

Fuchs T et al.

Nature Genetics, 2013

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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."