Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.V215A
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GLB1

NM_000404.4:p.V215A

Associated Papers

Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.

Riboldi GM et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2021

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.

Han MJ et al.

Stem Cell Research, 2020

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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."