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A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
Autores principales: | Hanes, Ilana, McMillan, Hugh J., Ito, Yoko, Kernohan, Kristin D., Lazier, Joanna, Lines, Matthew A., Dyment, David A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286657/ https://www.ncbi.nlm.nih.gov/pubmed/32607449 http://dx.doi.org/10.1212/NXG.0000000000000452 |
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