Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L310delFs
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GLA

NM_000169.3:p.L310delFs

Associated Papers

Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

Hutchcraft ML et al.

Journal of Personalized Medicine, 2022

Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

Boyd AC et al.

Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography, 2013

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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."