Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P198H
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GBA1

NM_000157.4:p.P198H

Associated Papers

Case Report: Novel Pathogenic Variant Detected in Two Siblings with Type 1 Gaucher Disease.

Dursun H et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2023

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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."