Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.C688Y
Back to variants list

GBA2

NM_020944.3:p.C688Y

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

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Cioffi E et al.

Neurogenetics, 2024

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Schiavoni S et al.

Developmental Medicine and Child Neurology, 2020

New biallelic GBA2 variant in a patient with SPG46.

Spagnoli C et al.

Clinical Neurology and Neurosurgery, 2020

[Case of hereditary hyperlipoproteinemia type I proceeding with severe anemia].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1980

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."