High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
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Auteurs | Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM and Nicolas G |
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Année | 2 023 |
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url DOI | 10.1007/s00439-023-02553-1 |