Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.*129K
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UBA52

NM_001033930.3:p.*129K

Associated Papers

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V et al.

International Journal of Molecular Sciences, 2016

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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."