@dpavot:29307790 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/@dpavot/sourceid/29307790","sourcedb":"@dpavot","sourceid":"29307790","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/29307790","text":"The aCGH analysis revealed a pathogenic CNV in the 14q11.2 region, while targeted exome sequencing revealed pathogenic variants in genes associated with intellectual disability (HUWE1, GRIN1), including a gene coding for mandibulofacial dysostosis with microcephaly (EFTUD2).","tracks":[{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":185,"end":190},"obj":"114787"},{"id":"T2","span":{"begin":221,"end":247},"obj":"HP:0005321"},{"id":"T3","span":{"begin":253,"end":265},"obj":"HP:0000252"}],"relations":[{"id":"R1","pred":"false","subj":"T2","obj":"T1"},{"id":"R2","pred":"false","subj":"T3","obj":"T1"}],"attributes":[{"subj":"T1","pred":"source","obj":"PGR-FAL"},{"subj":"T2","pred":"source","obj":"PGR-FAL"},{"subj":"T3","pred":"source","obj":"PGR-FAL"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PGR-FAL","color":"#93eca8","default":true}]}]}}