Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP943635.RAJyOcxmFrwmgSmNerOo7K7OoJKK_6eRCKNANV9TLsW2c#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16175500 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[' 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." provenance.