@dpavot:29307790 JSONTXT

{"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"}],"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)."}