Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T336S
Back to variants list

GBA1

NM_000157.4:p.T336S

Associated Papers

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.

Lerche S et al.

Npj Parkinson's Disease, 2025

40324994 (PubMed )
Supplement: 41531_2025_978_MOESM1_ESM.pdf

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

Longitudinal cognitive decline characterizes the profile of non-PD-manifest GBA1 mutation carriers.

Roeben B et al.

Npj Parkinson's Disease, 2024

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf

The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.

Lerche S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.

Alcalay RN et al.

Annals of Clinical and Translational Neurology, 2020

32888397 (PubMed )
Supplement: ACN3-7-1816-s001.docx

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

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."