Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome
| Autor: | Vanlerberghe, Clémence, Jourdain, Anne Sophie, Frenois, Frédéric, Ait-Yahya, Emilie, Bamshad, Mike, Dieux, Anne, Dufour, William, Leduc, Fiona, Manouvrier-Hanu, Sylvie, Patterson, Karynne, Ghoumid, Jamal, Escande, Fabienne, Smol, Thomas, Brunelle, Perrine, Petit, Florence |
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| Zdroj: | In Genetics in Medicine September 2024 |
| Databáze: | ScienceDirect |
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