Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion> ?p ?o ?g. }
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- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion type Assertion NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_head.
- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion description "[Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_provenance.
- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion evidence source_evidence_literature NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_provenance.
- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion SIO_000772 17993581 NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_provenance.
- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion wasDerivedFrom befree-20140225 NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_provenance.
- NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_assertion wasGeneratedBy ECO_0000203 NP440027.RANFis2syQ3IO_YXIQ9Z15ad3buQ20gailNgGYt8jPsRc130_provenance.