Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion> ?p ?o ?g. }
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- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion type Assertion NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_head.
- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion description "[This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_provenance.
- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion evidence source_evidence_literature NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_provenance.
- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion SIO_000772 26350127 NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_provenance.
- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion wasDerivedFrom befree-2016 NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_provenance.
- NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_assertion wasGeneratedBy ECO_0000203 NP1293836.RAT_Oe5ujKCSvaHOYAzjYqDB3AxJ74iHyjjDxnpz8dv8w130_provenance.