B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
Autor: | Bolund, Anneli C.S., Langdahl, Bente, Laurberg, Trine B., Hellfritzsch, Michel B., Gjørup, Hans, Møller-Madsen, Bjarne, Nielsen, Trine Ø., Farholt, Stense, Gregersen, Pernille A. |
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Zdroj: | In European Journal of Medical Genetics December 2021 64(12) |
Databáze: | ScienceDirect |
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