Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion> ?p ?o ?g. }
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- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion type Assertion NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_head.
- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion description "[Mutant POU4F3 loses most of its transcriptional activity and most of its ability to bind to DNA/mutation causes autosomal-dominant nonsyndromic hearing loss and eventually leads to hair cell morbidity in affected family H members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_provenance.
- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion evidence source_evidence_literature NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_provenance.
- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion SIO_000772 14585957 NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_provenance.
- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion wasDerivedFrom lhgdn-20090331 NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_provenance.
- NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_assertion wasGeneratedBy ECO_0000203 NP120727.RAPQDhwdcIcXxH7zHIxqbvBZ25gAowxw4wVdMPJaXKKy0130_provenance.