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  1. Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene

    Alexandra F. Nikolaeva, Timur V. Boyko, Vitaly V. Kadyshev +9

    ArticleGenetic and Kidney Cyst DiseasesGenes20260 citations
    ABI