PubMed:23528852 / 367-524 JSONTXT

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    sentences

    {"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":157},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":157},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T12","span":{"begin":145,"end":151},"obj":"gene:7846"},{"id":"T13","span":{"begin":86,"end":104},"obj":"disease:C0014544"}],"relations":[{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T2","span":{"begin":41,"end":54},"obj":"HP_0001339"},{"id":"T3","span":{"begin":56,"end":68},"obj":"HP_0000252"},{"id":"T4","span":{"begin":96,"end":104},"obj":"HP_0001250"}],"text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene."}

    DisGeNET5_gene_disease

    {"project":"DisGeNET5_gene_disease","denotations":[{"id":"23528852-0#42#55#diseaseC0266463","span":{"begin":41,"end":54},"obj":"diseaseC0266463"},{"id":"23528852-3#145#151#gene7846","span":{"begin":145,"end":151},"obj":"gene7846"},{"id":"23528852-3#86#104#diseaseC0014544","span":{"begin":86,"end":104},"obj":"diseaseC0014544"}],"relations":[{"id":"145#151#gene784686#104#diseaseC0014544","pred":"associated_with","subj":"23528852-3#145#151#gene7846","obj":"23528852-3#86#104#diseaseC0014544"}],"text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene."}

    PubCasesHPO

    {"project":"PubCasesHPO","denotations":[{"id":"AB2","span":{"begin":41,"end":54},"obj":"HP:0001339"},{"id":"AB3","span":{"begin":56,"end":68},"obj":"HP:0000252"},{"id":"AB4","span":{"begin":96,"end":104},"obj":"HP:0001250"}],"text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene."}