Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion> ?p ?o ?g. }
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- NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_assertion type Assertion NP760435.RAYkO5kOF6l0_ns3kFSNhaOESUdWnrOP5O13MY0hBh8eE130_head.
- 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.