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Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome by Irina Zh. Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan, Gulnara N. Seitova, Daria I. Zhigalina, Vasilisa Yu. Udalova, Maryana M. Danina, Ilya V. Kanivets, Nikolay A. Skryabin
Published 2022-09-01
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Case Report: A Novel Homozygous Variant of the <i>SERPINF1</i> Gene in Rare Osteogenesis Imperfecta Type VI by Irina Zh. Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin, Vadim Anatolevich Stepanov
Published 2023-04-01
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