Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion type Assertion NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_head.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_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." NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_provenance.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion evidence source_evidence_literature NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_provenance.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion SIO_000772 19426954 NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_provenance.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion wasDerivedFrom befree-20140225 NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_provenance.
- NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_assertion wasGeneratedBy ECO_0000203 NP269632.RA-XLkLHN3rOueJ_uOMVFG3VflU3E1KfP8jGDtseeXk6A130_provenance.