Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K46E
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GBA1

NM_000157.4:p.K46E

Associated Papers

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

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Phetthong T et al.

Orphanet Journal of Rare Diseases, 2021

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J et al.

Brain : a Journal of Neurology, 2009

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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."