Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion> ?p ?o ?g. }
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- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion type Assertion NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_head.
- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.
- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion evidence source_evidence_literature NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.
- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion SIO_000772 21426321 NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.
- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion wasDerivedFrom befree-20140225 NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.
- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion wasGeneratedBy ECO_0000203 NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.