Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P430S
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GBA1

NM_000157.4:p.P430S

Associated Papers

A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant.

Üçem S et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

The role of saposin C in Gaucher disease.

Tamargo RJ et al.

Molecular Genetics and Metabolism, 2012

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Diaz-Font A et al.

Human Genetics, 2005

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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."