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- source_evidence_literature type ECO_0000212 NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_assertion description "[Mutations in the CHRNA4 or CHRNB subunits of the neuronal nicotinic acetylcholine receptor lead to familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been found to cause benign familial neonatal convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_assertion evidence source_evidence_literature NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_assertion SIO_000772 11888238 NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_assertion wasDerivedFrom befree-2016 NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_assertion wasGeneratedBy ECO_0000203 NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.
- befree-2016 importedOn "2016-02-19" NP347570.RA269Yxj99ESiTAus2nr4sBU1GY17yTGEkSEkXc6q8NhU130_provenance.