Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion> ?p ?o ?g. }
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- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion type Assertion NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_head.
- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion description "[Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been detected in the COL11A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_provenance.
- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion evidence source_evidence_literature NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_provenance.
- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion SIO_000772 10486316 NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_provenance.
- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion wasDerivedFrom befree-20140225 NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_provenance.
- NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_assertion wasGeneratedBy ECO_0000203 NP543016.RA2Ak6IxNy-7EdZhxpckkTPWsMebXH_pYSA0mcQfY9BUQ130_provenance.