Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.N48I
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NPPB

NM_002521.3:p.N48I

Associated Papers

Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease.

Pogoda C et al.

Frontiers in Cardiovascular Medicine, 2023

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Jurickova K et al.

Journal of Personalized Medicine, 2022

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Reková P et al.

Journal of Clinical Medicine, 2021

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.

Müntze J et al.

Clinical Pharmacology and Therapeutics, 2019

Fabry disease cardiomyopathy: A state-of-the-art review.

Pande S et al.

Progress in Cardiovascular Diseases, 0

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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."