PRPF38B, pre-mRNA processing factor 38B, 55119

N. diseases: 22; N. variants: 0
Disease: Dentinogenesis Imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.010 GeneticVariation disease BEFREE Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. 19029076 2008