Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
| Autor: | Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S. |
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| Zdroj: | In Human Genetics and Genomics Advances 10 October 2024 5(4) |
| Databáze: | ScienceDirect |
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