Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion> ?p ?o ?g. }
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- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion type Assertion NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_head.
- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_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." NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_provenance.
- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion evidence source_evidence_literature NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_provenance.
- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion SIO_000772 21932316 NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_provenance.
- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion wasDerivedFrom befree-20150227 NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_provenance.
- NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_assertion wasGeneratedBy ECO_0000203 NP844408.RAmjqk6FM5sQH2_jQTIKjFMjBvnQq_8TEBvdOkJKcL4uE130_provenance.