Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.G683A
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GBA2

NM_020944.3:p.G683A

Associated Papers

The Enigmatic Role of GBA2 in Controlling Locomotor Function.

Woeste MA et al.

Frontiers in Molecular Neuroscience, 2017

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Sultana S et al.

Biochemical and Biophysical Research Communications, 2015

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Citterio A et al.

Journal of Neurology, 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."