Varaico: Literature-Extracted Genetic Variants

Gene:GNAL
Variant:p.V146M
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GNAL

NM_001142339.3:p.V146M

Associated Papers

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR et al.

Parkinsonism & Related Disorders, 2019

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

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

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