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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

Despite a recent surge in novel gene discovery, genetic causes of prenatal-lethal phenotypes remain poorly defined. To advance gene discovery in prenatal-lethal disorders, we created an easy-to-mine database integrating known human phenotypes with inheritance pattern, scores of genetic constraint, a...

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Detalles Bibliográficos
Autores principales:	Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465277/ https://www.ncbi.nlm.nih.gov/pubmed/30993004 http://dx.doi.org/10.1038/s41525-019-0081-z

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