Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.D365N
Back to variants list

GBA2

NM_020944.3:p.D365N

Associated Papers

Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.

Rossi M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

39927608 (PubMed )
Supplement: MDS-40-605-s001.docx

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations.

Tofoli FA et al.

Stem Cell Research, 2019

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.

Rozenberg R et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2006

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."