Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.I200N
Back to variants list

GBA1

NM_000157.4:p.I200N

Associated Papers

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease.

Gagliardi M et al.

Parkinsonism & Related Disorders, 2025

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Amico G et al.

Molecular Genetics and Metabolism, 2016

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."