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Mutational survivorship bias: The case of PNKP

The molecular function of a protein relies on its structure. Understanding how variants alter structure and function in multidomain proteins is key to elucidate the generation of a pathological phenotype. However, one may fall into the logical bias of assessing protein damage only based on the varia...

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Detalles Bibliográficos
Autores principales: Bermúdez-Guzmán, Luis, Jimenez-Huezo, Gabriel, Arguedas, Andrés, Leal, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7746193/
https://www.ncbi.nlm.nih.gov/pubmed/33332469
http://dx.doi.org/10.1371/journal.pone.0237682