Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.N490del1
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GLB1

NM_000404.4:p.N490del1

Associated Papers

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.

D'Souza P et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38313286 (PubMed )
Supplement: media-1.xlsx › Table_S1

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE et al.

Molecular Genetics & Genomic Medicine, 2018

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier DS et al.

American Journal of Medical Genetics. Part A, 2016

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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."