Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.S282delFs
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GLB1

NM_000404.4:p.S282delFs

Associated Papers

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.

Stockler-Ipsiroglu S et al.

Jimd Reports, 2021

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF et al.

Clinical Genetics, 2012

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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."