Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion> ?p ?o ?g. }
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- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion type Assertion NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_head.
- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion wasGeneratedBy ECO_0000203 NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_provenance.
- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion wasDerivedFrom befree-2016 NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_provenance.
- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion SIO_000772 19027966 NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_provenance.
- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion evidence source_evidence_literature NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_provenance.
- NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_assertion description "[One of these probands, however, is also homozygous for the 35delG mutation in the GJB2 gene and a second patient has Down syndrome, which is also associated with hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP705239.RArvRvDI4VnPpC9-k8htcZfRubghfusP2EoSGBOuDGDhQ130_provenance.