Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion> ?p ?o ?g. }
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- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion type Assertion NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_head.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_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." NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion evidence source_evidence_literature NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion SIO_000772 10486316 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion wasDerivedFrom befree-2016 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion wasGeneratedBy ECO_0000203 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.