Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I303F
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GLA

NM_000169.3:p.I303F

Associated Papers

Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.

Di Natale D et al.

Brain Sciences, 2025

40002499 (PubMed )
Supplement: brainsci-15-00166-s001.zip › brainsci-3430399-supplementary › Supplementary_table_S1.pdf

Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.

Mignani R et al.

Orphanet Journal of Rare Diseases, 2024

Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography.

Minnella AM et al.

Investigative Ophthalmology & Visual Science, 2019

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

Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin.

Graziani F et al.

European Journal of Case Reports in Internal Medicine, 2017

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Verrecchia E et al.

European Journal of Internal Medicine, 2016

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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."