[The defect in the type II OI patient affected residue 211 of the alpha 1(I) triple helical domain, and constitutes the most amino-terminal lethal glycine-->arginine substitution described to date.]. 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