Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion evidence source_evidence_literature NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion SIO_000772 22715480 NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion wasDerivedFrom befree-20140225 NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion wasGeneratedBy ECO_0000203 NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.