Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion> ?p ?o ?g. }
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- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion type Assertion NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_head.
- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion description "[Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_provenance.
- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion evidence source_evidence_literature NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_provenance.
- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion SIO_000772 11001806 NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_provenance.
- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion wasDerivedFrom befree-20150227 NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_provenance.
- NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_assertion wasGeneratedBy ECO_0000203 NP353382.RAtnmKPumVEMiFZSyrK93W8RW5ytU9SeT36alQCotRA6E130_provenance.