Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q157H
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GLA

NM_000169.3:p.Q157H

Associated Papers

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

Rickert V et al.

Journal of Internal Medicine, 2020

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

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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."