Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion> ?p ?o ?g. }
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- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion type Assertion NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_head.
- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion description "[Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of inheritance as only heterozygous females are affected, whereas hemizygous males are asymptomatic.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_provenance.
- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion evidence source_evidence_literature NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_provenance.
- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion SIO_000772 22267240 NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_provenance.
- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion wasDerivedFrom befree-20140225 NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_provenance.
- NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_assertion wasGeneratedBy ECO_0000203 NP697097.RAV53zyi-jCrmybODjeaoj6LEltX71fcjNKoUPQCHPQRs130_provenance.