Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y192H
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GLB1

NM_000404.4:p.Y192H

Associated Papers

Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.

Guan J et al.

Stem Cell Research, 2024

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.

Hosseini K et al.

Cell Biochemistry and Function, 2023

Late-infantile GM1 gangliosidosis: A case report.

Noh ES et al.

Medicine, 2022

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.

Priyanka K et al.

Metabolic Brain Disease, 2021

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

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

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Nestrasil I et al.

Molecular Genetics and Metabolism, 2018

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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."