Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion> ?p ?o ?g. }
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- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion type Assertion NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_head.
- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion description "[Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_provenance.
- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion evidence source_evidence_literature NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_provenance.
- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion SIO_000772 19426954 NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_provenance.
- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion wasDerivedFrom befree-20140225 NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_provenance.
- NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_assertion wasGeneratedBy ECO_0000203 NP933083.RAjN7KpK8PMbePdNX4Nvh0zkHPHRHGxR1pgjSxS4DO60c130_provenance.