Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion> ?p ?o ?g. }
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- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion type Assertion NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_head.
- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion description "[Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the `Madelung deformity.` SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_provenance.
- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion evidence source_evidence_literature NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_provenance.
- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion SIO_000772 16175500 NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_provenance.
- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion wasDerivedFrom befree-20140225 NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_provenance.
- NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_assertion wasGeneratedBy ECO_0000203 NP590005.RA2FSlzJ9OsoE43K3zthrZ6aeTVLJG_VSqpjHIctUYapU130_provenance.