Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.D409V
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TBC1D9

NM_015130.3:p.D409V

Associated Papers

A new brain-penetrant glucosylceramide synthase inhibitor as potential Therapeutics for Gaucher disease.

Fujii T et al.

Journal of Neurochemistry, 2021

Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3.

Wilson MW et al.

Acs Chemical Neuroscience, 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."