Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I26_P27delFs
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GLA

NM_000169.3:p.I26_P27delFs

Associated Papers

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

Simoncini C et al.

Journal of Neurology, 2020

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

Tuttolomondo A et al.

Oncotarget, 2017

Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Di Martino MT et al.

Oncotarget, 2016

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J et al.

Bmc Genetics, 2015

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

Tuttolomondo A et al.

Clinical Biochemistry, 2015

Genetic screening of Fabry patients with EcoTILLING and HRM technology.

Bono C et al.

Bmc Research Notes, 2011

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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."