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  1. 1
    Case Report: Identification of a novel hemizygous CFAP47 variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects

    Case Report: Identification of a novel hemizygous CFAP47 variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects by Miao He, Wangji Zhou, Yixuan Li, Qiaoling Chen, Yaping Liu, Xinlun Tian, Xue Zhang

    Published 2025-06-01
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  2. 2
    Comprehensive Bioinformatics Analysis of AGAP6: Linking Protein Networks, Genetic Variants, and Clinical Significance

    Comprehensive Bioinformatics Analysis of AGAP6: Linking Protein Networks, Genetic Variants, and Clinical Significance by P. Peddareddemma, Usha S. Adiga, P. Supriya, Alfred J. Augustine

    Published 2025-04-01
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  3. 3
    Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing

    Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing by Juliana Rocha Ferreira, Julia Passarelli Pereira, Anna Paula Arpini Botelho, Daniele do Nascimento Aprijo, Marcelo Machado Melo, Helena Cramer Veiga Rey, Glauber Monteiro Dias

    Published 2024-11-01
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