Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_assertion description "[Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_assertion evidence source_evidence_literature NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_assertion SIO_000772 21842183 NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_assertion wasDerivedFrom befree-20150227 NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_assertion wasGeneratedBy ECO_0000203 NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.
- befree-20150227 importedOn "2015-02-27" NP418547.RAFGdtxOrhDl70XzR6ShCbtd-Cem1eQ3QQ4jeXABeWF9o130_provenance.