. . . . . . . . . . . . "[The second mutation changed glycine 1040 to serine located at the border of D4 and D0.4, in a proband manifesting OI type III, and lowered collagen stability at 39 degrees C (2 degrees C lower than normal).]. 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 . "2013-07-24"^^ . "2014-10-02T12:31:58+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .