Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.R49H
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GLB1

NM_000404.4:p.R49H

Associated Papers

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.

Roy S et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2026

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Feng Y et al.

Metabolic Brain Disease, 2018

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Ou L et al.

Clinical Genetics, 2018

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Hofer D et al.

Clinical Genetics, 2010

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

Roze E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A et al.

Human Mutation, 2000

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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."