Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.H413P
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GBA1

NM_000157.4:p.H413P

Associated Papers

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

Jezela-Stanek A et al.

Journal of Clinical Medicine, 2021

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.

Wei M et al.

Frontiers in Pediatrics, 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."