PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 18804950-3 2009 This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). Glycine 175-182 collagen type III alpha 1 chain Homo sapiens 94-100