Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion> ?p ?o ?g. }
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- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion type Assertion NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_head.
- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion description "[One occurred in a CAH patient with a 6.2-kb TaqI fragment caused by a mutation at the TaqI site (TCGA) located downstream of the CYP21A2 gene, and the other was a parent in a suspected CAH family with a 3.2-kb TaqI fragment resulting from a 156-bp fragment conversion of the CYP21P promoter sequence which led to the production of a TaqI site at nt -209 and two additional CYP21A1P nucleotides at nt -198 (C>T) and -188/-189 (T insertion).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_provenance.
- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion evidence source_evidence_literature NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_provenance.
- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion SIO_000772 16684614 NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_provenance.
- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion wasDerivedFrom befree-2016 NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_provenance.
- NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_assertion wasGeneratedBy ECO_0000203 NP548833.RAWX6Vf0G9NXN8vAHrm5sjCdmYh7hxWX7P4UxbPs1W0lg130_provenance.