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{ ?s ?p ?o <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF184771.RAOtLknbrtNSLYtGoxOrtXO_1N9NJ3eRNw5iPHj9Zx4o4#assertion>. }
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UnderspecifiedAssertion
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The+GJB2+mutation+p.N14D+is+associated+with+recessively+inherited+HI+and+exhibits+a+defective+phenotype+due+to+diminished+expression+at+the+cell+surface.
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