Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.D176G
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NEU1

NM_000434.4:p.D176G

Associated Papers

An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics.

Odaka H et al.

Neurobiology of Disease, 2021

Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.

Seol B et al.

International Journal of Molecular Sciences, 2021

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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."