Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K196_I197Splc
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GBA1

NM_000157.4:p.K196_I197Splc

Associated Papers

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.

Madsen DA et al.

Cells, 2021

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

Barkhuizen M et al.

Neurochemistry International, 2016

Functional analysis of 11 novel GBA alleles.

Malini E et al.

European Journal of Human Genetics : Ejhg, 2014

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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."