Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L54delFs
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GLA

NM_000169.3:p.L54delFs

Associated Papers

Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy.

Weidemann F et al.

The American Journal of Cardiology, 2016

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

Schäfer E et al.

Human Mutation, 2005

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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."