Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
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- NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_assertion SIO_000772 23024041 NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
- NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_assertion evidence source_evidence_literature NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.
- NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_assertion description "[Rare putative mutations in the PCP genes VANGL2, SCRIB, DACT1, and CELSR1 cumulatively contributed to over 20% of cases with craniorachischisis, a rare defect; no contributing variants were found for PRICKLE1 or PTK7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1016690.RAy06Vc3XjCpyBY_N8gMsmyB2gsP_uDrCOBMSXDud8BFE130_provenance.