Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion type Assertion NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_head.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion description "[Correct diagnosis of 21-hydroxylase deficiency (21OHD) requires the identification of CYP21A2 gene deletions and CYP21A1P/CYP21A2 chimeric genes, which are disease-causing alleles, and gene duplications, which can lead to false-positive 21OHD allele results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_provenance.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion evidence source_evidence_literature NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_provenance.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion SIO_000772 17634211 NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_provenance.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion wasDerivedFrom befree-2016 NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_provenance.
- NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_assertion wasGeneratedBy ECO_0000203 NP620230.RAB26b5R0E-d8xMhUHRaRSt8OptXntDAKhJ43d6TuOKVY130_provenance.