Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion> ?p ?o ?g. }
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- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion type Assertion NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_head.
- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_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." NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_provenance.
- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion evidence source_evidence_literature NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_provenance.
- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion SIO_000772 10980526 NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_provenance.
- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion wasDerivedFrom befree-20140225 NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_provenance.
- NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_assertion wasGeneratedBy ECO_0000203 NP300608.RAC1EcpxMTilGhNqVOl785MPjina2k8m0i3oWbwzb8SWU130_provenance.