Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.A543insFs
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ELN

NM_000501.4:p.A543insFs

Associated Papers

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1.

Casazza K et al.

Journal of Inherited Metabolic Disease, 2026

Population analysis of the GLB1 gene in South Brazil.

Baiotto C et al.

Genetics and Molecular Biology, 2011

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.

Callahan JW

Biochimica Et Biophysica Acta, 1999

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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."