Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion description "[Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion evidence source_evidence_literature NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion SIO_000772 16358361 NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion wasDerivedFrom befree-20140225 NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion wasGeneratedBy ECO_0000203 NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_provenance.