Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion> ?p ?o ?g. }
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- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion type Assertion NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_head.
- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion description "[SHOX haploinsufficiency has been demonstrated in Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with disproportionate short stature, as well as in a variable proportion of cases with idiopathic short stature (ISS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_provenance.
- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion evidence source_evidence_literature NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_provenance.
- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion SIO_000772 21262861 NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_provenance.
- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion wasDerivedFrom befree-2016 NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_provenance.
- NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_assertion wasGeneratedBy ECO_0000203 NP867349.RA5BP8258kvtcuwYenABdUHGsJXcg_jaHmdDq3js0cRcs130_provenance.