De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intes...

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Bibliografiska uppgifter
I publikationen:Am J Med Genet A
Huvudupphovsmän: Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5867271/
https://ncbi.nlm.nih.gov/pubmed/29446546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38620
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