Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1044556.RATmBBpnOT3s-9k5wA8TMxObTDnlgmgf4TQmB4_OdaCNQ#assertion> ?p ?o ?g. }
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- assertion description "[To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16924011 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.