Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion> ?p ?o ?g. }
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- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion type Assertion NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_head.
- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion description "[Considering genotype-phenotype correlation, we suggest screening of the most common mutation, the c.428 _ 451 dup mutation by PCR, in patients with infantile spasm syndrome, Partington syndrome and non-syndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_provenance.
- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion evidence source_evidence_literature NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_provenance.
- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion SIO_000772 17613295 NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_provenance.
- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion wasDerivedFrom lhgdn-20090331 NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_provenance.
- NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_assertion wasGeneratedBy ECO_0000203 NP226911.RABzPMg8o-eqr6erQgAmr__l9AVvj2QxmHtoyMnDw783k130_provenance.