Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V333_V334Splc
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GBA1

NM_000157.4:p.V333_V334Splc

Associated Papers

High-risk screening for Gaucher disease in patients with neurological symptoms.

Momosaki K et al.

Journal of Human Genetics, 2018

Splicing: is there an alternative contribution to Parkinson's disease?

La Cognata V et al.

Neurogenetics, 2015

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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."