Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y50C
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GLB1

NM_000404.4:p.Y50C

Associated Papers

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Tebani A et al.

Journal of Medical Genetics, 2022

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS et al.

Brain & Development, 2018

Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas.

Wang H et al.

Nature Communications, 2017

28974674 (PubMed )
Supplement: 41467_2017_992_MOESM5_ESM.xlsx › Supplementary_Data_3
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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."