Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_assertion wasGeneratedBy ECO_0000218 NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_assertion wasDerivedFrom uniprot-20150221 NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_assertion SIO_000772 20410308 NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_assertion evidence source_evidence_curated NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.
- NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_assertion description "[Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353.RAe4HNYXhTNYuNfYLx2Q3gSTVS8NTLh60N_L19rsXJrCk130_provenance.