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Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene | Journal of Medical Genetics
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The CYP21A2 gene and its duplicated pseudogene (CYP21A1P). a Both genes... | Download Scientific Diagram
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Schematic representation of the mechanism of gene conversion, where a... | Download Scientific Diagram
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Distribution of the most common mutations along the CYP21A2 gene that... | Download Scientific Diagram
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Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
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Implications of <i>CYP21A2</i> gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency
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Frontiers | The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene | PLOS ONE
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The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency. - Abstract - Europe PMC
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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency | European Journal of Human Genetics
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