Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion wasGeneratedBy ECO_0000203 NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion wasDerivedFrom befree-2016 NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion SIO_000772 23142271 NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion evidence source_evidence_literature NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.
- NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion description "[The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance.