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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
E N Raykina1, A A Kolodkina1, A V Bolmasova1
1Endocrinology Research Centre.
Culler-Jones syndrome, caused by GLI2 gene variants, shows significant clinical diversity and incomplete penetrance. This study highlights the lack of a clear genotype-phenotype correlation in affected children.
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