PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 31193991-8 2019 Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G > A, p.Gly1099Glu, in exon 49 of COL1A2. Glycine 57-64 collagen type I alpha 2 chain Homo sapiens 123-129 31193991-11 2019 Here, we demonstrate that the novel glycine substitution in the carboxyl region of alpha2(I) collagen triple helix leads to OI/EDS with brachydactyly and severe tooth defects, expanding the genotypic and phenotypic spectra of OI/EDS overlap syndrome. Glycine 36-43 collagen type I alpha 2 chain Homo sapiens 83-101