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Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Pubmed ID: 
30558828
Year: 
2018
Month: 
Dec
Citation: 
Rius R, Riley LG, Guo Y, Menezes M, Compton AG, Van Bergen NJ, Gayevskiy V, Cowley MJ, Cummings BB, Adams L, Ellaway C, Thorburn DR, Hakonarson H, Christodoulou J. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. Molecular genetics and metabolism (2018) PubMed