Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion> ?p ?o ?g. }
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- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion type Assertion NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_head.
- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion description "[Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_provenance.
- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion evidence source_evidence_literature NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_provenance.
- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion SIO_000772 24504730 NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_provenance.
- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion wasDerivedFrom befree-2016 NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_provenance.
- NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_assertion wasGeneratedBy ECO_0000203 NP1153010.RAU3Rt2bob1GbOOomPwrX1KeSgITVksbCc1_A2RCM_sUE130_provenance.