Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion> ?p ?o ?g. }
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- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion type Assertion NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_head.
- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion wasGeneratedBy ECO_0000203 NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_provenance.
- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion wasDerivedFrom befree-20140225 NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_provenance.
- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion SIO_000772 11558903 NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_provenance.
- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion evidence source_evidence_literature NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_provenance.
- NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_assertion description "[Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780807.RAJR-KY5gTfgdV8Zpb2fkfUllQAnXKbh7-sIH2_XsBbYA130_provenance.