Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion> ?p ?o ?g. }
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- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion type Assertion NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_head.
- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion description "[To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_provenance.
- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion evidence source_evidence_literature NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_provenance.
- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion SIO_000772 16752401 NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_provenance.
- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion wasDerivedFrom befree-2016 NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_provenance.
- NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_assertion wasGeneratedBy ECO_0000203 NP553049.RA2C31vxpjtLVq2G4ug9tmit8S6hq4UoN9KvmRfyj3hlk130_provenance.