Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_assertion description "[Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_assertion evidence source_evidence_literature NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_assertion SIO_000772 23551428 NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_assertion wasDerivedFrom befree-20150227 NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_assertion wasGeneratedBy ECO_0000203 NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP905182.RAAf9ZyKvqS2-iBlZCS6j_ji6inVQBPQmJgyM2BrQf2m0130_provenance.