PubMed:23924083 / 94-304 JSONTXT

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{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":198,"end":204},"obj":"gene:3766"},{"id":"T1","span":{"begin":81,"end":138},"obj":"disease:C2748572"},{"id":"T2","span":{"begin":198,"end":204},"obj":"gene:3766"},{"id":"T3","span":{"begin":140,"end":153},"obj":"disease:C2748572"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene."}

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{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23924083-1#198#204#gene3766","span":{"begin":198,"end":204},"obj":"gene3766"},{"id":"23924083-1#81#138#diseaseC2748572","span":{"begin":81,"end":138},"obj":"diseaseC2748572"},{"id":"23924083-1#140#153#diseaseC2748572","span":{"begin":140,"end":153},"obj":"diseaseC2748572"}],"relations":[{"id":"198#204#gene376681#138#diseaseC2748572","pred":"associated_with","subj":"23924083-1#198#204#gene3766","obj":"23924083-1#81#138#diseaseC2748572"},{"id":"198#204#gene3766140#153#diseaseC2748572","pred":"associated_with","subj":"23924083-1#198#204#gene3766","obj":"23924083-1#140#153#diseaseC2748572"}],"text":"Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene."}

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