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Mutational spectrum and functional analysis of the HGD gene variants identified in large Russian cohort of patients with alkaptonuria

Igor Bychkov,Andrey Nekrasov,Elena Kamenets,Marina Kurkina,Georgiy Rychkov,Alexandra Ilyushkina,Aleksandra Filatova,Darya Guseva,Galina Baydakova,Aleksandr Cheblokov,Mikhail Skoblov,Ekaterina Zakharova

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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