Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L375R
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GBA1

NM_000157.4:p.L375R

Associated Papers

Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.

Gras-Colomer E et al.

Basic & Clinical Pharmacology & Toxicology, 2018

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

Ortiz-Cabrera NV et al.

Molecular Genetics and Metabolism Reports, 2016

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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."