Cite
APA Citation
Akesson, L. S., Bournazos, A., Fennell, A., Krzesinski, E. I., Tan, K., Springer, A., Rose, K., Goranitis, I., Francis, D., Lee, C., Faiz, F., Davis, M. R., Christodoulou, J., Lunke, S., Stark, Z., Hunter, M. F., & Cooper, S. T. (2020). rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Human mutation, 41(11), 1884–1891. http://access.bl.uk/ark:/81055/vdc_100113737550.0x000047