Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion> ?p ?o ?g. }
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- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion type Assertion NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_head.
- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion description "[PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_provenance.
- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion evidence source_evidence_literature NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_provenance.
- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion SIO_000772 23073245 NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_provenance.
- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion wasDerivedFrom befree-20150227 NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_provenance.
- NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_assertion wasGeneratedBy ECO_0000203 NP523312.RAQ9lr0R2KbL4h7_OWKCZ3Qq1-Pkdhn4VB67Kww8_ufpg130_provenance.