Varaico: Literature-Extracted Genetic Variants

Gene:GABBR1
Variant:p.R48W
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GABBR1

NM_001470.4:p.R48W

Associated Papers

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.

Szymańska-Rożek P et al.

International Journal of Molecular Sciences, 2024

Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.

Becker-Cohen M et al.

Internal Medicine Journal, 2024

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Dinur T et al.

International Journal of Molecular Sciences, 2022

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