[mutations near amino end of alpha1 (I) collagen are directly responsible for the bone fragility of osteogenesis imperfecta and indirectly responsible for Ehlers-Danlos syndrome symptoms, by interference with N-propeptide removal ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE