Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.G289A
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GBA1

NM_000157.4:p.G289A

Associated Papers

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

Powline DG et al.

Cureus, 2025

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Singh K et al.

Bmc Medical Genetics, 2020

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Du X et al.

Medicine, 2018

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C et al.

Journal of Human Genetics, 2015

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C et al.

Journal of Human Genetics, 2014

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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."