Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion> ?p ?o ?g. }
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- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion type Assertion NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_head.
- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion description "[Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder caused by mutations in the steroid 21-hydroxylase gene (CYP21A2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_provenance.
- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion evidence source_evidence_literature NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_provenance.
- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion SIO_000772 23073904 NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_provenance.
- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion wasDerivedFrom befree-2016 NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_provenance.
- NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_assertion wasGeneratedBy ECO_0000203 NP1021738.RAfT5Bsq2vpoEZEYhDx-vEkwFiqEdT5t5Te-r9eP-w_kk130_provenance.