Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion> ?p ?o ?g. }
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- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion type Assertion NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_head.
- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_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." NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_provenance.
- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion evidence source_evidence_literature NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_provenance.
- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion SIO_000772 19724992 NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_provenance.
- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion wasDerivedFrom befree-2016 NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_provenance.
- NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_assertion wasGeneratedBy ECO_0000203 NP760807.RAYKnN6UefydXt1QTbRIse4QvUocLX62A4xEzJjX3sX2w130_provenance.