The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function,...

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Publicat a:Am J Hum Genet
Autors principals: Boycott, Kym M., Campeau, Philippe M., Howley, Heather E., Pavlidis, Paul, Rogic, Sanja, Oriel, Christine, Berman, Jason N., Hamilton, Robert M., Hicks, Geoffrey G., Lipshitz, Howard D., Masson, Jean-Yves, Shoubridge, Eric. A., Junker, Anne, Leroux, Michel R., McMaster, Christopher R., Michaud, Jaques L., Turvey, Stuart E., Dyment, David, Innes, A. Micheil, van Karnebeek, Clara D., Lehman, Anna, Cohn, Ronald D., MacDonald, Ian M., Rachubinski, Richard A., Frosk, Patrick, Vandersteen, Anthony, Wozniak, Richard W., Pena, Izabella A., Wen, Xiao-Yan, Lacaze-Masmonteil, Thierry, Rankin, Catharine, Hieter, Philip
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
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Commentary
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7010971/
https://ncbi.nlm.nih.gov/pubmed/32032513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.01.009
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