Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.D597delFs
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GBA2

NM_020944.3:p.D597delFs

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

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].

Lin SZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Wei Q et al.

Translational Neurodegeneration, 2019

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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."