Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_assertion description "[Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_assertion evidence source_evidence_literature NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_assertion SIO_000772 23551428 NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_assertion wasDerivedFrom befree-20150227 NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_assertion wasGeneratedBy ECO_0000203 NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP905224.RAVBtukv00cAWIsO_pqeZfviyUybsxkyfwVa0G8JYsUI8130_provenance.