CORD-19:775b90287b44353bee979abb0970a4666022f86d / 62843-63121 JSONTXT

{"project":"CORD-19-Sentences","denotations":[{"id":"T48942","span":{"begin":0,"end":278},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"In addition, a heterozygous mutation of PRKDC, which has been linked to severe combined immunodeficiency when homozygous defects are present and a heterozygous mutation of the IKBKB gene which has also been linked to an immune deficiency when homozygous defects were identified."}

{"project":"CORD-19_Custom_license_subset","denotations":[{"id":"T139","span":{"begin":0,"end":278},"obj":"Sentence"}],"text":"In addition, a heterozygous mutation of PRKDC, which has been linked to severe combined immunodeficiency when homozygous defects are present and a heterozygous mutation of the IKBKB gene which has also been linked to an immune deficiency when homozygous defects were identified."}

{"project":"CORD-19-PD-MONDO","denotations":[{"id":"T326","span":{"begin":72,"end":104},"obj":"Disease"},{"id":"T327","span":{"begin":79,"end":104},"obj":"Disease"},{"id":"T328","span":{"begin":88,"end":104},"obj":"Disease"},{"id":"T42356","span":{"begin":72,"end":104},"obj":"Disease"},{"id":"T15264","span":{"begin":79,"end":104},"obj":"Disease"},{"id":"T35936","span":{"begin":88,"end":104},"obj":"Disease"}],"attributes":[{"id":"A326","pred":"mondo_id","subj":"T326","obj":"http://purl.obolibrary.org/obo/MONDO_0015974"},{"id":"A327","pred":"mondo_id","subj":"T327","obj":"http://purl.obolibrary.org/obo/MONDO_0015131"},{"id":"A328","pred":"mondo_id","subj":"T328","obj":"http://purl.obolibrary.org/obo/MONDO_0021094"},{"id":"A31601","pred":"mondo_id","subj":"T42356","obj":"http://purl.obolibrary.org/obo/MONDO_0015974"},{"id":"A13094","pred":"mondo_id","subj":"T15264","obj":"http://purl.obolibrary.org/obo/MONDO_0015131"},{"id":"A67439","pred":"mondo_id","subj":"T35936","obj":"http://purl.obolibrary.org/obo/MONDO_0021094"}],"text":"In addition, a heterozygous mutation of PRKDC, which has been linked to severe combined immunodeficiency when homozygous defects are present and a heterozygous mutation of the IKBKB gene which has also been linked to an immune deficiency when homozygous defects were identified."}

{"project":"CORD-19-PD-HP","denotations":[{"id":"T213","span":{"begin":72,"end":104},"obj":"Phenotype"},{"id":"T214","span":{"begin":220,"end":237},"obj":"Phenotype"}],"attributes":[{"id":"A213","pred":"hp_id","subj":"T213","obj":"http://purl.obolibrary.org/obo/HP_0004430"},{"id":"A214","pred":"hp_id","subj":"T214","obj":"http://purl.obolibrary.org/obo/HP_0002721"}],"text":"In addition, a heterozygous mutation of PRKDC, which has been linked to severe combined immunodeficiency when homozygous defects are present and a heterozygous mutation of the IKBKB gene which has also been linked to an immune deficiency when homozygous defects were identified."}