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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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2020
Ämnen:
Commentary
Länkar: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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