Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion> ?p ?o ?g. }
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- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion type Assertion NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_head.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion wasGeneratedBy ECO_0000203 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion wasDerivedFrom befree-20140225 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion SIO_000772 22883145 NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_provenance.
- NP688527.RAsnu0xzxbRCEvzsV4grZQXGQGQSYN-tK_4WWc1ugQYJw130_assertion evidence source_evidence_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.