Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.G399R
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GBA1

NM_000157.4:p.G399R

Associated Papers

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Powline DG et al.

Cureus, 2025

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J et al.

Bmc Medical Genetics, 2019

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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."