Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V333_V334Splc
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GBA1

NM_000157.4:p.V333_V334Splc

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

Spargo TP et al.

Cell Reports, 2025

40056900 (PubMed )
Supplement: NIHMS2069108-supplement-5.xlsx › GBA1_variants

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

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2
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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."