Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

Published 2017 View Full Article

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Title
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants
Authors
Keywords
G6PD, G6PD deficiency, enzymopathy, missense variants, ExAC database, PCA, variants of unknown significance, VUS, protein stability, enzyme activity
Journal
Cell Reports
Volume 18, Issue 11, Pages 2592-2599
Publisher
Elsevier BV
Online
2017-03-15
DOI
10.1016/j.celrep.2017.02.048

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