Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_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." NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_assertion evidence source_evidence_literature NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_assertion SIO_000772 16358361 NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_assertion wasDerivedFrom befree-2016 NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_assertion wasGeneratedBy ECO_0000203 NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.
- befree-2016 importedOn "2016-02-19" NP527281.RAL-DrzPt_JwPSeK0r67WZurDjw87QbQyum3ptc8tCEvE130_provenance.