Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion> ?p ?o ?g. }
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- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion type Assertion NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_head.
- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion description "[SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_provenance.
- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion evidence source_evidence_literature NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_provenance.
- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion SIO_000772 25468468 NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_provenance.
- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion wasDerivedFrom befree-2016 NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_provenance.
- NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_assertion wasGeneratedBy ECO_0000203 NP1244270.RA28TQm3OfZoID8969l1tpXQhBOkPUKGGo4Ocs_4x4a5k130_provenance.