Balogh et al., 2020 - Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America   117(26):15137-15147 Full text @ Proc. Natl. Acad. Sci. USA
8 Genes / Markers
Marker Type Symbol Name
Gene ccnd1 cyclin D1
Gene dkc1 dyskeratosis congenita 1, dyskerin
Gene fabp2 fatty acid binding protein 2, intestinal
Gene gata1a GATA binding protein 1a
Gene myb v-myb avian myeloblastosis viral oncogene homolog
Gene prss1 serine protease 1
Gene rag1 recombination activating 1
Gene tp53 tumor protein p53