Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_assertion description "[We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_assertion evidence source_evidence_literature NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_assertion SIO_000772 18979121 NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_assertion wasDerivedFrom befree-20140225 NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_assertion wasGeneratedBy ECO_0000203 NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.
- befree-20140225 importedOn "2014-02-25" NP837884.RA7z7Q3oOoR3ye1ocojtvmw3k3e7L5YmyNd5DXtaZuQic130_provenance.