Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion> ?p ?o ?g. }
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- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion type Assertion NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_head.
- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion description "[Two patients affected by severe dRTA with early onset SNHL showed the same mutation in the ATP6V1B1 gene and bilateral EVA with a different degree of severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_provenance.
- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion evidence source_evidence_literature NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_provenance.
- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion SIO_000772 19639346 NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_provenance.
- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion wasDerivedFrom befree-2016 NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_provenance.
- NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_assertion wasGeneratedBy ECO_0000203 NP754130.RAbPNoreTg6RtuVCAmCOLAS-qBQlNukGb9aAZZnzh6yxk130_provenance.