PubMed:8910493 / 0-152
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":152},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":152},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":24,"end":30},"obj":"gene:1277"},{"id":"T1","span":{"begin":128,"end":151},"obj":"disease:C0029434"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8910493-0#24#30#gene1277","span":{"begin":24,"end":30},"obj":"gene1277"},{"id":"8910493-0#128#151#diseaseC0029434","span":{"begin":128,"end":151},"obj":"diseaseC0029434"}],"relations":[{"id":"24#30#gene1277128#151#diseaseC0029434","pred":"associated_with","subj":"8910493-0#24#30#gene1277","obj":"8910493-0#128#151#diseaseC0029434"}],"text":"Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":121,"end":151},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0008147"}],"text":"Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta."}