Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion> ?p ?o ?g. }
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- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion type Assertion NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_head.
- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion wasGeneratedBy ECO_0000203 NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_provenance.
- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion wasDerivedFrom befree-20150227 NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_provenance.
- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion SIO_000772 15537666 NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_provenance.
- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion evidence source_evidence_literature NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_provenance.
- NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_assertion description "[All five probands with familial disease had a deletion mutation within the closely linked STX16 gene and a GNAS imprinting defect involving only the exon 1A region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP801770.RAE0aUiZ9kGoSpNRzfLTHXV84V9Cm0Xb_H2v1zM6zucvs130_provenance.