Varaico: Literature-Extracted Genetic Variants

Gene:PI3
Variant:p.K48I
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PI3

NM_002638.4:p.K48I

Associated Papers

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.

De Brabander I et al.

Clinical Neurology and Neurosurgery, 2013

Fabry disease cardiomyopathy: A state-of-the-art review.

Pande S et al.

Progress in Cardiovascular Diseases, 0

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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."