Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion> ?p ?o ?g. }
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- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion type Assertion NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_head.
- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion description "[Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_provenance.
- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion evidence source_evidence_literature NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_provenance.
- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion SIO_000772 19724992 NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_provenance.
- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion wasDerivedFrom befree-20140225 NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_provenance.
- NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_assertion wasGeneratedBy ECO_0000203 NP552322.RAg028uJ7izqO_h5i0w903u6q9gX-l-i77d1V2rC5MP74130_provenance.