Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion> ?p ?o ?g. }
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- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion type Assertion NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_head.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion description "[A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion evidence source_evidence_literature NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion SIO_000772 22132097 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion wasDerivedFrom befree-20140225 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion wasGeneratedBy ECO_0000203 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.