Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion> ?p ?o ?g. }
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- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion type Assertion NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_head.
- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion description "[In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_provenance.
- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion evidence source_evidence_literature NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_provenance.
- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion SIO_000772 15639189 NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_provenance.
- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion wasDerivedFrom befree-2016 NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_provenance.
- NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_assertion wasGeneratedBy ECO_0000203 NP475377.RAebqljrIHp56XcgvkaQDk9hDXmr21bim3Jkk-6KaWX0c130_provenance.