دورية أكاديمية
P115: Identification of a novel SDHB c.638T>G, p.M213R likely pathogenic variant accountable for hereditary paraganglioma-pheochromocytoma syndrome: A case report
العنوان: | P115: Identification of a novel SDHB c.638T>G, p.M213R likely pathogenic variant accountable for hereditary paraganglioma-pheochromocytoma syndrome: A case report |
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المؤلفون: | Liu, Yi, Kuo, Mickey, Talvacchio, Sara, Derkyi, Alberta, Nilubol, Naris, Calzone, Kathleen, Pacak, Karel, Raffeld, Mark |
المصدر: | In Genetics in Medicine Open 2024 2 Supplement 1 |
قاعدة البيانات: | ScienceDirect |
تدمد: | 29497744 |
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DOI: | 10.1016/j.gimo.2024.100996 |