| http://www.w3.org/ns/prov#value | - Information on test sensitivity, specificity, and other test characteristics can be found at www.eurogentest.org [Kohl & Hamel 2013 (full text)].Testing StrategyTo confirm/establish the diagnosis in a proband, the order of molecular genetic testing is the following:1.Targeted mutation analysis for the most common mutation c.1148delC in CNGB32.Sequence analysis of CNGA33.Sequence analysis of CNGB34
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