Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion> ?p ?o ?g. }
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- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion type Assertion NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_head.
- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion description "[We report a novel truncating mutation in DFNB31 associated with severe rod-cone dystrophy and varying degrees of hearing impairment in a consanguineous family of Portuguese origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_provenance.
- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion evidence source_evidence_literature NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_provenance.
- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion SIO_000772 21738389 NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_provenance.
- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion wasDerivedFrom befree-2016 NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_provenance.
- NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_assertion wasGeneratedBy ECO_0000203 NP907958.RAQbScRaPgdqVhsefYdD0-FSF3reZpuBXTG29fBSY9q5o130_provenance.