Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion> ?p ?o ?g. }
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- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion type Assertion NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_head.
- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion description "[Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_provenance.
- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion evidence source_evidence_literature NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_provenance.
- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion SIO_000772 22341974 NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_provenance.
- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion wasDerivedFrom befree-20140225 NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_provenance.
- NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_assertion wasGeneratedBy ECO_0000203 NP338414.RAD88Rfnqgln6JnP4xYb9lzU7fyukTu2rR3_87ALoTxtk130_provenance.