Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion> ?p ?o ?g. }
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- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion type Assertion NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_head.
- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion description "[Independently, another group has recently observed SRD5A3 mutations in several families with a type 1 congenital disorder of glycosylation (CDG type Ix, OMIM 212067), mental retardation, cerebellar ataxia and eye disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_provenance.
- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion evidence source_evidence_literature NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_provenance.
- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion SIO_000772 20700148 NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_provenance.
- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion wasDerivedFrom befree-20140225 NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_provenance.
- NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_assertion wasGeneratedBy ECO_0000203 NP915320.RAJWU_GReLQHNmvjxPHVDJwNG8rIQHnuDoHRm5jtMrTmU130_provenance.