Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion> ?p ?o ?g. }
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- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion type Assertion NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_head.
- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion description "[Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic fetal face dysmorphology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_provenance.
- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion evidence source_evidence_literature NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_provenance.
- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion SIO_000772 15952209 NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_provenance.
- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion wasDerivedFrom befree-2016 NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_provenance.
- NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_assertion wasGeneratedBy ECO_0000203 NP499194.RA_qtqLMB77KDOSl5FwqoZqFeuPwyfXuGM8pTcDabZ2S4130_provenance.