Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.I51N
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GLB1

NM_000404.4:p.I51N

Associated Papers

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Capitini C et al.

Biomedicines, 2022

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Tonin R et al.

Scientific Reports, 2019

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Reale C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F et al.

Metabolic Brain Disease, 2017

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A et al.

Biochimica Et Biophysica Acta, 2011

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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."