Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D448V
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GBA1

NM_000157.4:p.D448V

Associated Papers

Dissecting the biological impact of GBA1 mutations using multi-omics in an isogenic setting.

Jerez PÁ et al.

Biorxiv : the Preprint Server for Biology, 2025

A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.

Furderer ML et al.

International Journal of Molecular Sciences, 2024

Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.

Thanprasertsuk S et al.

Plos One, 2023

C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.

Magnusen AF et al.

International Journal of Molecular Sciences, 2021

Exploring genetic modifiers of Gaucher disease: The next horizon.

Davidson BA et al.

Human Mutation, 2018

Assessing risk for Mendelian disorders in a Bronx population.

diSibio G et al.

Molecular Genetics & Genomic Medicine, 2017

28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S2

Gaucher disease paradigm: from ERAD to comorbidity.

Bendikov-Bar I et al.

Human Mutation, 2012

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."