Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion type Assertion NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_head.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion wasGeneratedBy ECO_0000203 NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_provenance.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion wasDerivedFrom befree-20140225 NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_provenance.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion SIO_000772 11558903 NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_provenance.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_assertion evidence source_evidence_literature NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_provenance.
- NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_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." NP619436.RAia-kOCEF2YoK-q_mpqagXh3FJNJTeaZt397DCcII0yo130_provenance.