Quintana et al., 2017 - Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Human molecular genetics   26(15):2838-2849 Full text @ Hum. Mol. Genet.
2 Genes / Markers
Marker Type Symbol Name
Gene hcfc1b host cell factor C1b
Gene thap11 THAP domain containing 11