Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.D409V
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GC

NM_000583.4:p.D409V

Associated Papers

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.

Arévalo NB et al.

Frontiers in Molecular Neuroscience, 2022

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.

Pandey MK et al.

Nature, 2017

Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.

Sun Y et al.

Plos One, 2013

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.

Sun Y et al.

Human Molecular Genetics, 2010

Glucocerebrosidase (Gaucher disease).

Beutler E et al.

Human Mutation, 1996

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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."