PubMed:12746442 / 0-285 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"12746442_0","span":{"begin":153,"end":157},"obj":"ProteinMutation"}],"attributes":[{"id":"12746442_0_ProteinMutation","pred":"proteinmutation","subj":"12746442_0","obj":"rs1357942068"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":88},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":88},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":260,"end":285},"obj":"HP_0003344"},{"id":"T2","span":{"begin":277,"end":285},"obj":"HP_0012072"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":260,"end":285},"obj":"HP:0003344"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":250,"end":285},"obj":"ORDO:20"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":250,"end":285},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0009520"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":260,"end":285},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003344"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.\nThis study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria"}