Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion description "[CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion evidence source_evidence_literature NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion SIO_000772 25173900 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion wasDerivedFrom befree-2016 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_assertion wasGeneratedBy ECO_0000203 NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215296.RAiucFgGZ_Ndz9Y_jkYm8CbJ-cNNXF3McNeItxpVBj9ms130_provenance.