Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- befree-2016 importedOn "2016-02-19" NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_assertion wasGeneratedBy ECO_0000203 NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_assertion wasDerivedFrom befree-2016 NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_assertion SIO_000772 20967465 NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_assertion evidence source_evidence_literature NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.
- NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_assertion description "[Rather, our findings suggest that loss-of-function mutations of RAB3GAP1 as well as functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome while hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP847503.RAo21fNeuDXBVe7P1P7w7oNMm1f-Yi7I40ZYc3Bo97y-s130_provenance.