Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- befree-2016 importedOn "2016-02-19" NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_assertion wasGeneratedBy ECO_0000203 NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_assertion wasDerivedFrom befree-2016 NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_assertion SIO_000772 19251738 NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_assertion evidence source_evidence_literature NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.
- NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_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." NP723201.RA6he8ZYKfLcfK1f3T3MjeW-u686xKZKTcHqgQAAf6xR0130_provenance.