Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion> ?p ?o ?g. }
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- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion type Assertion NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_head.
- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_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." NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_provenance.
- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion evidence source_evidence_curated NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_provenance.
- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion SIO_000772 23221805 NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_provenance.
- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion wasDerivedFrom ctd_human-20130708 NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_provenance.
- NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_assertion wasGeneratedBy ECO_0000218 NP16175.RA9AeO6gG5hy0c8a_RH5yvtShtXjmihnxkX4dnRtirwZo130_provenance.