Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion> ?p ?o ?g. }
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- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion type Assertion NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_head.
- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_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." NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_provenance.
- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion evidence source_evidence_literature NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_provenance.
- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion SIO_000772 23552953 NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_provenance.
- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion wasDerivedFrom befree-2016 NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_provenance.
- NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_assertion wasGeneratedBy ECO_0000203 NP1066050.RAI54RPrMbxxpZjL17W7HoAPs9CcfOEpWmVLZaf5v1lM4130_provenance.