Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion> ?p ?o ?g. }
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- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion type Assertion NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_head.
- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion description "[We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_provenance.
- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion evidence source_evidence_literature NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_provenance.
- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion SIO_000772 16652336 NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_provenance.
- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion wasDerivedFrom befree-2016 NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_provenance.
- NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_assertion wasGeneratedBy ECO_0000203 NP547871.RAVD8c1DAQUjuuPo7aq39TSC_KfAF7a7TvvUSEd3iLhgs130_provenance.