Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A229V
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GBA1

NM_000157.4:p.A229V

Associated Papers

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
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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."