Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion> ?p ?o ?g. }
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- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion type Assertion NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_head.
- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion description "[A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_provenance.
- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion evidence source_evidence_literature NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_provenance.
- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion SIO_000772 12402266 NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_provenance.
- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion wasDerivedFrom befree-20150227 NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_provenance.
- NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_assertion wasGeneratedBy ECO_0000203 NP954517.RAHFBEc5ccHb37z99iFU_sEutJGJiRZ5TM3PT19QgVnDY130_provenance.