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- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion type Assertion NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_head.
- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion description "[Combining linkage analysis and whole-exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_provenance.
- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion evidence source_evidence_literature NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_provenance.
- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion SIO_000772 25512093 NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_provenance.
- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion wasDerivedFrom befree-2016 NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_provenance.
- NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_assertion wasGeneratedBy ECO_0000203 NP1248404.RAapUaUKTMv5PvJMve33Sn019i3LFjDRGv5t-p58p564E130_provenance.