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Understanding mutational effects in digenic diseases

To further our understanding of the complexity and genetic heterogeneity of rare diseases, it has become essential to shed light on how combinations of variants in different genes are responsible for a disease phenotype. With the appearance of a resource on digenic diseases, it has become possible t...

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Detalles Bibliográficos
Autores principales: Gazzo, Andrea, Raimondi, Daniele, Daneels, Dorien, Moreau, Yves, Smits, Guillaume, Van Dooren, Sonia, Lenaerts, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587785/
https://www.ncbi.nlm.nih.gov/pubmed/28911095
http://dx.doi.org/10.1093/nar/gkx557