Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion wasGeneratedBy ECO_0000203 NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion wasDerivedFrom befree-20140225 NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion SIO_000772 19251738 NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion evidence source_evidence_literature NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP421784.RAWK35L4FzwzRDAVa7s6cSLc7EP-UHndLyftDdWJpbgOw130_provenance.