Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion> ?p ?o ?g. }
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- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion type Assertion NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_head.
- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_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." NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_provenance.
- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion evidence source_evidence_literature NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_provenance.
- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion SIO_000772 16175500 NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_provenance.
- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion wasDerivedFrom befree-20150227 NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_provenance.
- NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_assertion wasGeneratedBy ECO_0000203 NP693891.RAcOIgJRO7UC7KGclXQ-0hKZK-HiALtbQvl9aWFmrnd1s130_provenance.