Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.R873C
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GBA2

NM_020944.3:p.R873C

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG46

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.

Algahtani H et al.

Genes & Diseases, 2021

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S1

SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.

Yang YJ et al.

Journal of Neurology, 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."