Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V53M
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GBA1

NM_000157.4:p.V53M

Associated Papers

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

Tonin R et al.

Clinical Parkinsonism & Related Disorders, 2025

Genotypic-Phenotypic Analysis, Metabolic Profiling and Clinical Correlations in Parkinson's Disease Patients from Tamil Nadu Population, India.

Venkatesan D et al.

Journal of Molecular Neuroscience : Mn, 2022

Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations.

Chen M et al.

Stem Cell Research, 2020

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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."