Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1370367.RA4Y7O9D2DfKTes5oCr4IdCvLa1s4k7755lP1Fx7HTgcY#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20700148 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.