Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of�OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion evidence source_evidence_literature NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion SIO_000772 22883145 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion wasDerivedFrom befree-20140225 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion wasGeneratedBy ECO_0000203 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.