Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G579D
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ELN

NM_000501.4:p.G579D

Associated Papers

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A et al.

Biochimica Et Biophysica Acta, 2011

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A et al.

Human Mutation, 2005

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A et al.

Human Mutation, 2000

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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."