Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion> ?p ?o ?g. }
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- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion type Assertion NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_head.
- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion wasGeneratedBy ECO_0000203 NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_provenance.
- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion wasDerivedFrom befree-20150227 NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_provenance.
- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion SIO_000772 22887726 NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_provenance.
- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion evidence source_evidence_literature NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_provenance.
- NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_assertion description "[Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with 'chondrodysplasia with joint dislocations, gPAPP type' due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP968279.RAvz2aEX_nkD3a_CV5fjbK3eADsuF4ADAg80DAiKbtwVM130_provenance.