Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF5
Variant:p.L444P
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ARHGEF5

NM_005435.4:p.L444P

Associated Papers

Clinical Utility of GBA Genotyping Prior to Deep Brain Stimulation: A Narrative Review.

Rački V et al.

Genes, 2026

Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.

Lanore A et al.

Npj Parkinson's Disease, 2025

GBA Variants and Parkinson Disease: Mechanisms and Treatments.

Smith L et al.

Cells, 2022

Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders.

Woodard J et al.

Plos Computational Biology, 2021

X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.

Dvir H et al.

Embo Reports, 2003

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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."