Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion> ?p ?o ?g. }
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- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion type Assertion NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_head.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_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." NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion evidence source_evidence_literature NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion SIO_000772 21262861 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion wasDerivedFrom befree-2016 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.
- NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_assertion wasGeneratedBy ECO_0000203 NP867348.RAPLCmgvdIk21c6cmYFmZVALilskB2yKgIWzf9UqGc5HI130_provenance.