Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP646708.RAbKZBzgrra5GpTiMersX6yqid6siHrowZD6vTyGcGGKA#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16358361 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.