Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G43insFs
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GLA

NM_000169.3:p.G43insFs

Associated Papers

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

Verrecchia E et al.

European Journal of Internal Medicine, 2016

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

Morrone A et al.

Journal of Medical Genetics, 2003

Early detection of Fabry cardiomyopathy by tissue Doppler imaging.

Pieroni M et al.

Circulation, 2003

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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."