Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion> ?p ?o ?g. }
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- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion type Assertion NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_head.
- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion wasGeneratedBy ECO_0000203 NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_provenance.
- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion wasDerivedFrom befree-2016 NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_provenance.
- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion SIO_000772 18512229 NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_provenance.
- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_assertion evidence source_evidence_literature NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_provenance.
- NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_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." NP674031.RAm68lTU4bSvtFoRP7mfPmP0VuIFY-vUNJrREzxM7ZxFI130_provenance.