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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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Detalles Bibliográficos
Autores principales: Pacheco-García, Juan Luis, Cano-Muñoz, Mario, Sánchez-Ramos, Isabel, Salido, Eduardo, Pey, Angel L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711955/
https://www.ncbi.nlm.nih.gov/pubmed/33153185
http://dx.doi.org/10.3390/jpm10040207