Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_assertion type Assertion NP741272.RA0fny7aHejmZn3HkIY7QcSo6XvetbdCGDfw5ghUe5Xcw130_head.
- 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.