Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion> ?p ?o ?g. }
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- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion type Assertion NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_head.
- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion description "[A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_provenance.
- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion evidence source_evidence_literature NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_provenance.
- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion SIO_000772 16033914 NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_provenance.
- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion wasDerivedFrom lhgdn-20090331 NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_provenance.
- NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_assertion wasGeneratedBy ECO_0000203 NP212046.RAfHOQlkZPlBLA3AtY0N_8iWXeSJraPGcVjajLiFM58Jo130_provenance.