Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_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." NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion evidence source_evidence_literature NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion SIO_000772 22341974 NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion wasDerivedFrom befree-20140225 NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion wasGeneratedBy ECO_0000203 NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_provenance.