Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.R505W
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HEXB

NM_000521.4:p.R505W

Associated Papers

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J et al.

Jimd Reports, 2024

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Godbole NP et al.

Annals of Clinical and Translational Neurology, 2024

38009419 (PubMed )
Supplement: ACN3-11-207-s001.docx

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

Blondel A et al.

Molecular Genetics and Metabolism, 2023

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant.

Beecher G et al.

Neurology. Genetics, 2022

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
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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."