Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K237R
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GBA1

NM_000157.4:p.K237R

Associated Papers

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

Yang J et al.

Npj Parkinson's Disease, 2025

40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

Tonin R et al.

Clinical Parkinsonism & Related Disorders, 2025

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E et al.

Human Mutation, 2002

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 0

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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."