Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion> ?p ?o ?g. }
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- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion type Assertion NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_head.
- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_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." NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_provenance.
- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion evidence source_evidence_curated NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_provenance.
- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion SIO_000772 23221805 NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_provenance.
- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion wasDerivedFrom ctd_human-20130708 NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_provenance.
- NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_assertion wasGeneratedBy ECO_0000218 NP16172.RALYRWtuewZt09xCl4lsRh1UcNr0N8RI3xRdW8LXM71Sc130_provenance.