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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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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Gazzo, Andrea, Raimondi, Daniele, Daneels, Dorien, Moreau, Yves, Smits, Guillaume, Van Dooren, Sonia, Lenaerts, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587785/
https://ncbi.nlm.nih.gov/pubmed/28911095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx557
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