Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L425fs
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GLA

NM_000169.3:p.L425fs

Associated Papers

First case of late onset cardiac phenotype Fabry disease due to an AluYb8 insertion in exon 7 of the GLA gene.

Gatterer C et al.

European Heart Journal. Cardiovascular Imaging, 2019

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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."