Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion> ?p ?o ?g. }
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- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion type Assertion NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_head.
- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion description "[In male patient 3 carrying a 22q11.21 microduplication inherited from his unaffected father, WES identified a novel missense variant in the OPHN1 X-linked intellectual disability gene inherited from the unaffected mother as a possible additional cause for developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_provenance.
- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion evidence source_evidence_literature NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_provenance.
- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion SIO_000772 23552953 NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_provenance.
- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion wasDerivedFrom befree-20150227 NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_provenance.
- NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_assertion wasGeneratedBy ECO_0000203 NP603242.RAB0Mu6UcOGvBVkHyAVn5QOGO25eJLTb9jfBmBWRqaoDk130_provenance.