PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 29572562-4 2018 Here, we describe a consanguineous family with autosomal recessive OI caused by a novel homozygous glycine substitution in COL1A2, NM_000089.3: c.604G>A, p.(Gly202Ser), detected by whole-genome sequencing. Glycine 99-106 collagen type I alpha 2 chain Homo sapiens 123-129 29572562-9 2018 Interestingly, the parents and one sister, all carriers of the COL1A2 glycine mutation, did not have manifestations of OI. Glycine 70-77 collagen type I alpha 2 chain Homo sapiens 63-69 29572562-10 2018 In summary, we report on autosomal recessive OI caused by a homozygous glycine-to-serine substitution in COL1A2, leading to severe skeletal fragility. Glycine 71-78 collagen type I alpha 2 chain Homo sapiens 105-111