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Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
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CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
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Human Mutation, 2018
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