Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L393V
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GBA1

NM_000157.4:p.L393V

Associated Papers

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

Miryounesi M et al.

Neurogenetics, 2025

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Curado F et al.

Diagnostics (basel, Switzerland), 2023

Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.

Mozafari H et al.

Iranian Journal of Child Neurology, 2021

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."