Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_assertion description "[We sequenced KCNQ4 from Japanese patients with sensorineural hearing loss, and identified a novel missense mutation encoding a Tyr270His located at the N-terminus of the highly conserved pore helix sequence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_assertion evidence source_evidence_literature NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_assertion SIO_000772 22420747 NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_assertion wasDerivedFrom befree-2016 NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_assertion wasGeneratedBy ECO_0000203 NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.
- befree-2016 importedOn "2016-02-19" NP967952.RAO3222-FULH0skuy5T3PPJgmjGI8G5C4WwdS3jFeEEIg130_provenance.