Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S463Splc
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GBA1

NM_000157.4:p.S463Splc

Associated Papers

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Omar A et al.

The Malaysian Journal of Pathology, 2025

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

Phetthong T et al.

Orphanet Journal of Rare Diseases, 2021

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Nichols WC et al.

Neurology, 2009

Clinical and molecular characterization of an extended family with Fabry disease.

Wattanasirichaigoon D et al.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2006

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

Suwannarat P et al.

Blood Cells, Molecules & Diseases, 0

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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."