Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP942320.RA4bG_hNV-8BXa_14X7IMJhK1dk3nX9wrM_pNhuxuBD58#provenance>. }
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- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- UNIPROT importedOn "2017-01-25" provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 19603532 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.