Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Q184_V185Splc
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GLB1

NM_000404.4:p.Q184_V185Splc

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

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar KR et al.

Neurogenetics, 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."