Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y270S
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GLB1

NM_000404.4:p.Y270S

Associated Papers

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.

Zagaynova VA et al.

Frontiers in Genetics, 2024

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.

Priyanka K et al.

Metabolic Brain Disease, 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

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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."