@dpavot:29121203 JSONTXT

{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":266,"end":271},"obj":"83659"},{"id":"T2","span":{"begin":171,"end":189},"obj":"HP:0006644"}],"relations":[{"id":"R1","pred":"false","subj":"T1","obj":"T2"}],"text":"Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia."}