MALE DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?
| العنوان: | MALE DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION? |
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| المؤلفون: | Maria Laura Duque Lasio, Jorge Granadillo de Luque, Lisa E. Kratz |
| المصدر: | Molecular Genetics and Metabolism. 138:107407 |
| بيانات النشر: | Elsevier BV, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry |
| تدمد: | 1096-7192 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::0b8318ed7c06ed7a42237319833276b2 https://doi.org/10.1016/j.ymgme.2023.107407 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........0b8318ed7c06ed7a42237319833276b2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10967192 |
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