Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype
| Autor: | Starosta, Rodrigo Tzovenos, Tarnowski, Jessica, Vairo, Filippo Pinto e, Raymond, Kimiyo, Preston, Graeme, Morava, Eva |
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| Zdroj: | In European Journal of Medical Genetics July 2020 63(7) |
| Databáze: | ScienceDirect |
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