Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion> ?p ?o ?g. }
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- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion type Assertion NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_head.
- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion description "[Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_provenance.
- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion evidence source_evidence_literature NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_provenance.
- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion SIO_000772 19400538 NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_provenance.
- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion wasDerivedFrom befree-20150227 NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_provenance.
- NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_assertion wasGeneratedBy ECO_0000203 NP974450.RA67qQEtdwMjTKf6Q-zdnFpIQFGwwq5_UaxgvRWugG6ag130_provenance.