Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion> ?p ?o ?g. }
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- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion type Assertion NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_head.
- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_provenance.
- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion evidence source_evidence_literature NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_provenance.
- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion SIO_000772 17993581 NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_provenance.
- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion wasDerivedFrom befree-2016 NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_provenance.
- NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_assertion wasGeneratedBy ECO_0000203 NP639684.RAbbusDm_ctAtV4TQYxKE5pnTP3fFwj9iq-BeKDBqGSeU130_provenance.