Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion> ?p ?o ?g. }
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- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion type Assertion NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_head.
- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion wasGeneratedBy ECO_0000203 NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_provenance.
- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion wasDerivedFrom befree-2016 NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_provenance.
- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion SIO_000772 11558903 NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_provenance.
- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_assertion evidence source_evidence_literature NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_provenance.
- NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_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." NP330261.RACsoVqAx5Ejk5h3WfJm8JtYL5Jle2yrF7Ax4Z2fkLTQw130_provenance.