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An online compendium of treatable genetic disorders

More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care. Unfortunately, it can be cha...

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Detalles Bibliográficos
Autores principales: Bick, David, Bick, Sarah L., Dimmock, David P., Fowler, Tom A., Caulfield, Mark J., Scott, Richard H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986124/
https://www.ncbi.nlm.nih.gov/pubmed/33350578
http://dx.doi.org/10.1002/ajmg.c.31874