Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion> ?p ?o ?g. }
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- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion type Assertion NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_head.
- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_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." NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_provenance.
- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion evidence source_evidence_literature NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_provenance.
- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion SIO_000772 10486316 NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_provenance.
- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion wasDerivedFrom befree-20150227 NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_provenance.
- NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_assertion wasGeneratedBy ECO_0000203 NP320856.RAa9SDR-Kf5qZfYFWE72rqpqTX_4Ko4vQ7w50OjMHIRS0130_provenance.