Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion> ?p ?o ?g. }
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- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion type Assertion NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_head.
- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion description "[The syndrome o SEDT, precocious OA, and brachydactyly in a kindred of Chiloe Islanders is associated with a point mutation in 1 allele of the COL2A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_provenance.
- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion evidence source_evidence_literature NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_provenance.
- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion SIO_000772 8024616 NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_provenance.
- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion wasDerivedFrom befree-20140225 NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_provenance.
- NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_assertion wasGeneratedBy ECO_0000203 NP303095.RA8kvIidq1ZfpGnrDBmYvMY3F2rVJlxMiqLlq9qH9JVRM130_provenance.