Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion type Assertion NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_head.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion wasGeneratedBy ECO_0000218 NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_provenance.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion wasDerivedFrom uniprot-2016 NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_provenance.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion SIO_000772 9186905 NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_provenance.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion evidence source_evidence_curated NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_provenance.
- NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_assertion description "[Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9401.RADidrkVu3Mzi9t7xV9KUGj9leB0Utx1n71GqDC5U6dnQ130_provenance.