Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion type Assertion NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_head.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_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." NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_provenance.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion evidence source_evidence_literature NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_provenance.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion SIO_000772 19400538 NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_provenance.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion wasDerivedFrom befree-2016 NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_provenance.
- NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_assertion wasGeneratedBy ECO_0000203 NP735240.RAoDl6B_9wLrWfCzEEHjzvwB4yi_wVxkTSnwDto4EgP6A130_provenance.