Next Generation Sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

Pubmed ID: 
22072591
Year: 
2012
Month: 
DEC (online)
Volume: 
33
Citation: 
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR. Next Generation Sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. HUMAN MUTATION 33 : 411 - 418(2012) PubMed