Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion> ?p ?o ?g. }
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- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion type Assertion NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_head.
- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_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." NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_provenance.
- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion evidence source_evidence_literature NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_provenance.
- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion SIO_000772 16358361 NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_provenance.
- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion wasDerivedFrom befree-20140225 NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_provenance.
- NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_assertion wasGeneratedBy ECO_0000203 NP304337.RAz0K1Wurl0ojJc5JQWsjbO8ivKN9H0KGsybFhoOIrWJ4130_provenance.