Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion> ?p ?o ?g. }
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- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion type Assertion NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_head.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_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." NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion evidence source_evidence_literature NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion SIO_000772 10486316 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion wasDerivedFrom befree-20150227 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.
- NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_assertion wasGeneratedBy ECO_0000203 NP320861.RAvCxTb7sYTwQMvLPYzkz_vCkumIMPyY5UpgDbTsvtJZA130_provenance.