TY  - JOUR 
AU  - Pacheco García, Juan Luis
AU  - Cano Muñoz, Mario
AU  - Sánchez Ramos, Isabel
AU  - Salido, Eduardo
AU  - Pey Rodríguez, Ángel Luis
PY  - 2020
UR  - http://hdl.handle.net/10481/66577
AB  - 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...
LA  - eng
PB  - Mdpi
KW  - Missense mutation
KW  - Genetic diseases
KW  - Protein structure-function
KW  - Genotype-phenotype correlations
KW  - Multifunctional proteins
TI  - Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein
DO  - 10.3390/jpm10040207
ER  -