Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion type Assertion NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_head.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion description "[We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (IGHD), cleft palate, and optic disc cupping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion evidence source_evidence_literature NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion SIO_000772 25342853 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion wasDerivedFrom befree-2016 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_assertion wasGeneratedBy ECO_0000203 NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.