Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

The functional and pathological implications of the enormous genetic diversity of the human genome are mostly unknown, primarily due to our unability to predict pathogenicity in a high-throughput manner. In this work, we characterized the phenotypic consequences of eight naturally-occurring missense...

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Bibliographic Details
Main Authors:	Juan Luis Pacheco-García, Mario Cano-Muñoz, Isabel Sánchez-Ramos, Eduardo Salido, Angel L. Pey
Format:	Article
Language:	English
Published:	MDPI AG 2020-11-01
Series:	Journal of Personalized Medicine
Subjects:	missense mutation genetic disease protein structure-function genotype–phenotype correlations multifunctional proteins
Online Access:	https://www.mdpi.com/2075-4426/10/4/207

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