Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion> ?p ?o ?g. }
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- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion type Assertion NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_head.
- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion description "[Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_provenance.
- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion evidence source_evidence_literature NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_provenance.
- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion SIO_000772 22821627 NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_provenance.
- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion wasDerivedFrom befree-2016 NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_provenance.
- NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_assertion wasGeneratedBy ECO_0000203 NP999508.RATS-vzKYIhag-zSUHBXXjo2eEWoi-bzFEe2L3r08h1xY130_provenance.