Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion> ?p ?o ?g. }
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- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion type Assertion NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_head.
- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion description "[Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_provenance.
- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion evidence source_evidence_literature NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_provenance.
- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion SIO_000772 25524373 NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_provenance.
- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion wasDerivedFrom befree-2016 NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_provenance.
- NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_assertion wasGeneratedBy ECO_0000203 NP1249444.RAjoYMzob_Zhn2MZy5EiF4l9HnFo34a9MRblaZhgX7ah4130_provenance.