Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.K73E
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GLB1

NM_000404.4:p.K73E

Associated Papers

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

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

Ou L et al.

Clinical Genetics, 2018

The TatC component of the twin-arginine protein translocase functions as an obligate oligomer.

Cléon F et al.

Molecular Microbiology, 2015

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

Hofer D et al.

Clinical Genetics, 2010

Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case report.

Roze E et al.

Neurosurgery, 2006

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

Roze E et al.

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

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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."