Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP776874.RAUOUCC4iNYnqXY9P56d3QFJ8txdJ7r9mMGSAA1vW3W5U#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18512229 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.