Varaico: Literature-Extracted Genetic Variants

Gene:GABBR1
Variant:p.A433S
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GABBR1

NM_001470.4:p.A433S

Associated Papers

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

37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Weinreb NJ et al.

Molecular Genetics and Metabolism, 2022

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

35163551 (PubMed )
Supplement: ijms-23-01627-s001.zip › Table_S1.pdf
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