Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion description "[As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion evidence source_evidence_literature NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion SIO_000772 21738390 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion wasDerivedFrom befree-20150227 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_assertion wasGeneratedBy ECO_0000203 NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP775472.RAURXDeo4pDm_Ue8c-VTo7sfsVOEnThVCJDCcMaVIVYhg130_provenance.