Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion> ?p ?o ?g. }
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- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion type Assertion NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_head.
- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion description "[Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_provenance.
- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion evidence source_evidence_literature NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_provenance.
- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion SIO_000772 23456229 NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_provenance.
- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion wasDerivedFrom befree-2016 NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_provenance.
- NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_assertion wasGeneratedBy ECO_0000203 NP1057343.RAXbmqMKC5UVTyJhZ6FboGCyAwWPOr9iM30iYxQ35O1N0130_provenance.