Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion> ?p ?o ?g. }
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- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion type Assertion NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_head.
- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion description "[The Chudley-Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed nasal bridge, anteverted nares, inverted-V-shaped upper lip, and macrostomia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_provenance.
- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion evidence source_evidence_literature NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_provenance.
- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion SIO_000772 15508018 NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_provenance.
- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion wasDerivedFrom befree-20140225 NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_provenance.
- NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_assertion wasGeneratedBy ECO_0000203 NP923973.RAIMmxWYD1v7kyELTvXhgkUzpF0UKLtFvy0KJ8bu_fBmc130_provenance.