Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.M267_L268Splc
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GLA

NM_000169.3:p.M267_L268Splc

Associated Papers

A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene.

Watanabe T et al.

Internal Medicine (tokyo, Japan), 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."