Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1185864.RAyblOOGGnquhjUnsECImJZw_K-Ldp54GaVvBwPQgQUb8#assertion> ?p ?o ?g. }
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- assertion description "[Of 26 other reported recessive ECEL1 mutation cases (14 families), all had arthrogryposis, 19 had documented ptosis, and 4 had documented complex strabismus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25173900 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.