CORD-19:775b90287b44353bee979abb0970a4666022f86d / 614556-614755 JSONTXT

{"project":"CORD-19-Sentences","denotations":[{"id":"T170","span":{"begin":0,"end":199},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We report a patient with heterozygous NHEJ1 deficiency in which the defect involves the dimerization domain, leading to a malformation of the functional enzyme similarly found in homozygous mutation."}

{"project":"CORD-19_Custom_license_subset","denotations":[{"id":"T254","span":{"begin":0,"end":199},"obj":"Sentence"}],"text":"We report a patient with heterozygous NHEJ1 deficiency in which the defect involves the dimerization domain, leading to a malformation of the functional enzyme similarly found in homozygous mutation."}

{"project":"CORD-19-PD-MONDO","denotations":[{"id":"T4739","span":{"begin":38,"end":54},"obj":"Disease"},{"id":"T65603","span":{"begin":38,"end":54},"obj":"Disease"}],"attributes":[{"id":"A4739","pred":"mondo_id","subj":"T4739","obj":"http://purl.obolibrary.org/obo/MONDO_0012650"},{"id":"A29493","pred":"mondo_id","subj":"T65603","obj":"http://purl.obolibrary.org/obo/MONDO_0012650"}],"text":"We report a patient with heterozygous NHEJ1 deficiency in which the defect involves the dimerization domain, leading to a malformation of the functional enzyme similarly found in homozygous mutation."}