Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion> ?p ?o ?g. }
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- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion type Assertion NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_head.
- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion description "[Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_provenance.
- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion evidence source_evidence_literature NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_provenance.
- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion SIO_000772 17993581 NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_provenance.
- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion wasDerivedFrom befree-2016 NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_provenance.
- NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_assertion wasGeneratedBy ECO_0000203 NP639682.RAvhWf-V1btFTLAPJNmSXHQGcIkfjUAWhwemffKdJ5bKg130_provenance.