Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.N437delFs
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GLB1

NM_000404.4:p.N437delFs

Associated Papers

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Genetic Approach to Diagnosis of Intellectual Disability.

Puri RD et al.

Indian Journal of Pediatrics, 2016

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

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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."