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Using mechanistic models for the clinical interpretation of complex genomic variation

The sustained generation of genomic data in the last decade has increased the knowledge on the causal mutations of a large number of diseases, especially for highly penetrant Mendelian diseases, typically caused by a unique or a few genes. However, the discovery of causal genes in complex diseases h...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Peña-Chilet, María, Esteban-Medina, Marina, Falco, Matias M., Rian, Kinza, Hidalgo, Marta R., Loucera, Carlos, Dopazo, Joaquín
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6908734/
https://ncbi.nlm.nih.gov/pubmed/31831811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-55454-7
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