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Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants

Kévin Cassinari Alice Goldenberg Pascale Saugier-Veber Camille Charbonnier Gaël Nicolas Anne Rovelet-Lecrux Céline Derambure Myriam Vezain Sophie Coutant Anne-Claire Richard Nathalie Drouot Juliette Coursimault Gabriella Vera

基因与疾病（英文）2025，Vol.12Issue(3)：68-71,4.

基因与疾病（英文）2025，Vol.12Issue(3)：68-71,4.DOI:10.1016/j.gendis.2024.101386

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants

Kévin Cassinari ¹Alice Goldenberg ¹Pascale Saugier-Veber ¹Camille Charbonnier ²Gaël Nicolas ¹Anne Rovelet-Lecrux ¹Céline Derambure ¹Myriam Vezain ¹Sophie Coutant ¹Anne-Claire Richard ¹Nathalie Drouot ¹Juliette Coursimault ¹Gabriella Vera¹

作者信息

1. Univ Rouen Normandie,Normandie Univ,Inserm U1245 and CHU Rouen,Department of Genetics and Reference Center for Developmental Disorders,Rouen F-76000,France
2. Univ Rouen Normandie,Normandie Univ,Inserm U1245 and CHU Rouen,Department of Biostatistics,F-76000 Rouen,France
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Kévin Cassinari,Alice Goldenberg,Pascale Saugier-Veber,Camille Charbonnier,Gaël Nicolas,Anne Rovelet-Lecrux,Céline Derambure,Myriam Vezain,Sophie Coutant,Anne-Claire Richard,Nathalie Drouot,Juliette Coursimault,Gabriella Vera..Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants[J].基因与疾病（英文）,2025,12(3):68-71,4.

基因与疾病（英文）

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