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- source_evidence_literature type ECO_0000212 NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_assertion description "[We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_assertion evidence source_evidence_literature NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_assertion SIO_000772 21458570 NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_assertion wasDerivedFrom befree-20150227 NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_assertion wasGeneratedBy ECO_0000203 NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.
- befree-20150227 importedOn "2015-02-27" NP522610.RAnlV7l3n8xEEh35-lC5pS8C8n-noL_VajktZ4M9r3R70130_provenance.