Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion> ?p ?o ?g. }
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- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion type Assertion NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_head.
- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_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." NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_provenance.
- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion evidence source_evidence_literature NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_provenance.
- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion SIO_000772 20700148 NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_provenance.
- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion wasDerivedFrom befree-20150227 NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_provenance.
- NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_assertion wasGeneratedBy ECO_0000203 NP944663.RASeFLE3AYC1WrDFBBgAjO_0FI6JOhyeL4mOgeHlDjXFs130_provenance.