Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion> ?p ?o ?g. }
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- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion type Assertion NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_head.
- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion description "[report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_provenance.
- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion evidence source_evidence_literature NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_provenance.
- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion SIO_000772 17993581 NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_provenance.
- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion wasDerivedFrom lhgdn-20090331 NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_provenance.
- NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_assertion wasGeneratedBy ECO_0000203 NP147878.RA7nXriwNx08x9j6g2-eT4OPfx2OJrDNyGSfemNZTtChE130_provenance.