Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion type Assertion NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_head.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion wasGeneratedBy ECO_0000203 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion wasDerivedFrom befree-20140225 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion SIO_000772 17720887 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion evidence source_evidence_literature NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion description "[Most of the JAGGED1 mutations generate premature termination codons, and as a result, two pathogenic mechanisms causing AGS have been proposed: haploinsufficiency or a dominant-negative effect of putative truncated proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.