Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E75_V76Splc
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APP

NM_000484.4:p.E75_V76Splc

Associated Papers

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL et al.

Human Mutation, 2000

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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."