. . . . . . . . . . . . "[Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:53+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .