Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1217616.RAdSaPPGxUeeF_a2kZHv6OhyWh7OPghFL-zM5ZHXU5ZS0#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21932316 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.