@dpavot:29121203 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/@dpavot/sourceid/29121203","sourcedb":"@dpavot","sourceid":"29121203","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/29121203","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.","tracks":[{"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"}],"attributes":[{"subj":"T1","pred":"source","obj":"PGR-FAL"},{"subj":"T2","pred":"source","obj":"PGR-FAL"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PGR-FAL","color":"#ec93cb","default":true}]}]}}