Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N272I
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GLA

NM_000169.3:p.N272I

Associated Papers

Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.

Borisch C et al.

Journal of Translational Medicine, 2024

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Ferri L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

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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."