Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1230301.RAEnJ2kSyPzB3yEr9Wagdjh_fOtPuUsMpvm_Wi7Uwgb6Y#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in these genes cause autosomal recessive (GJB2 and GJB3), autosomal dominant (GJB2, GJB3, and GJB6) or X-linked (GJB1) hearing impairment, both syndromic (GJB2, keratoderma; GJB3 erythrokeratodermia variabilis; and GJB1, peripheral neuropathy), and non-syndromic (GJB2, GJB3, and GJB6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10980526 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.