Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion> ?p ?o ?g. }
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- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion type Assertion NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_head.
- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion description "[Mutations in the ??tubulin isotype III (TUBB3) gene result in TUBB3 syndrome that includes congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual impairments and/or an axonal sensorimotor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_provenance.
- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion evidence source_evidence_literature NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_provenance.
- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion SIO_000772 25482575 NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_provenance.
- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion wasDerivedFrom befree-2016 NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_provenance.
- NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_assertion wasGeneratedBy ECO_0000203 NP1245596.RAaHjJFb5005_HxiLh2VHlyzidHkhvMIDlxibreBd4ZME130_provenance.