Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_assertion description "[Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_assertion evidence source_evidence_curated NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_assertion SIO_000772 23221805 NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_assertion wasDerivedFrom ctd_human-20130708 NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_assertion wasGeneratedBy ECO_0000218 NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP16173.RA8B4qbetZ3XZXzUaTqgvcOuxn_v32wtD_CBBnoIFaBNY130_provenance.