Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y36C
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GLB1

NM_000404.4:p.Y36C

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

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

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."