PubMed:25138275 / 138-260 JSONTXT

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    ggdb-test

    {"project":"ggdb-test","denotations":[{"id":"T2","span":{"begin":17,"end":22},"obj":"https://acgg.asia/db/ggdb/info/gg171"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    GGDB-2020

    {"project":"GGDB-2020","denotations":[{"id":"T2","span":{"begin":17,"end":22},"obj":"https://acgg.asia/db/ggdb/info/gg171"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    sentences

    {"project":"sentences","denotations":[{"id":"T2","span":{"begin":0,"end":122},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    Glycosmos6-MAT

    {"project":"Glycosmos6-MAT","denotations":[{"id":"T1","span":{"begin":102,"end":107},"obj":"http://purl.obolibrary.org/obo/MAT_0000098"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":52,"end":81},"obj":"HP_0003741"},{"id":"T2","span":{"begin":63,"end":81},"obj":"HP_0003560"},{"id":"T3","span":{"begin":102,"end":121},"obj":"HP_0012443"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    glycogenes

    {"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T2","span":{"begin":17,"end":22},"obj":"https://acgg.asia/db/ggdb/info/gg171"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    PubCasesHPO

    {"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":54,"end":83},"obj":"HP:0003741"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    mondo_disease

    {"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":52,"end":81},"obj":"Disease"},{"id":"T2","span":{"begin":83,"end":86},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0019950"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0007251"},{"id":"A3","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0007397"},{"id":"A4","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019950"},{"id":"A5","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0044875"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    Anatomy-MAT

    {"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":102,"end":107},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000098"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    HP-phenotype

    {"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":52,"end":81},"obj":"Phenotype"},{"id":"T2","span":{"begin":83,"end":86},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}

    Anatomy-UBERON

    {"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":102,"end":107},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"A2","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_6110636"}],"text":"Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities."}