Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion> ?p ?o ?g. }
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- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion type Assertion NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_head.
- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion description "[Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_provenance.
- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion evidence source_evidence_curated NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_provenance.
- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion SIO_000772 10486316 NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_provenance.
- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion wasDerivedFrom uniprot-2016 NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_provenance.
- NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_assertion wasGeneratedBy ECO_0000218 NP389.RAFGDpDKZ3FTBjQRHqw2u690aIA59FL4YwRxD1dIGvcbE130_provenance.