PubMed:15471865 / 761-942 JSONTXT

{"project":"Glycosmos6-MAT","denotations":[{"id":"T6","span":{"begin":142,"end":145},"obj":"http://purl.obolibrary.org/obo/MAT_0000140"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15471865-4#100#105#gene8671","span":{"begin":100,"end":105},"obj":"gene8671"},{"id":"15471865-4#162#180#diseaseC0025362","span":{"begin":162,"end":180},"obj":"diseaseC0025362"},{"id":"15471865-4#162#180#diseaseC3714756","span":{"begin":162,"end":180},"obj":"diseaseC3714756"}],"relations":[{"id":"100#105#gene8671162#180#diseaseC0025362","pred":"associated_with","subj":"15471865-4#100#105#gene8671","obj":"15471865-4#162#180#diseaseC0025362"},{"id":"100#105#gene8671162#180#diseaseC3714756","pred":"associated_with","subj":"15471865-4#100#105#gene8671","obj":"15471865-4#162#180#diseaseC3714756"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"PubCasesORDO","denotations":[{"id":"AB3","span":{"begin":125,"end":129},"obj":"ORDO:47159"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T8","span":{"begin":0,"end":181},"obj":"Sentence"},{"id":"T8","span":{"begin":0,"end":181},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T3","span":{"begin":142,"end":145},"obj":"http://purl.obolibrary.org/obo/UBERON_0000970"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"DisGeNET","denotations":[{"id":"T12","span":{"begin":100,"end":105},"obj":"gene:8671"},{"id":"T13","span":{"begin":162,"end":180},"obj":"disease:C0025362"}],"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":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"Anatomy-MAT","denotations":[{"id":"T6","span":{"begin":142,"end":145},"obj":"Body_part"}],"attributes":[{"id":"A6","pred":"mat_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MAT_0000140"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"mondo_disease","denotations":[{"id":"T7","span":{"begin":125,"end":129},"obj":"Disease"},{"id":"T8","span":{"begin":162,"end":180},"obj":"Disease"}],"attributes":[{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0008369"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0001071"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T3","span":{"begin":142,"end":145},"obj":"Body_part"}],"attributes":[{"id":"A3","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0000019"},{"id":"A4","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0000970"},{"id":"A5","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0010230"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}

{"project":"HP-phenotype","denotations":[{"id":"T7","span":{"begin":125,"end":129},"obj":"Phenotype"},{"id":"T8","span":{"begin":162,"end":180},"obj":"Phenotype"}],"attributes":[{"id":"A7","pred":"hp_id","subj":"T7","obj":"HP:0002049"},{"id":"A8","pred":"hp_id","subj":"T8","obj":"HP:0001249"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation."}