Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P205delFs
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GLA

NM_000169.3:p.P205delFs

Associated Papers

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Simoncini C et al.

Journal of Neurology, 2020

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

Tuttolomondo A et al.

Oncotarget, 2017

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

Colomba P et al.

Clinical Biochemistry, 2012

Delayed diagnosis of Fabry disease presenting as myocardial ischaemia.

Marcì M et al.

Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 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."