Novel dominant-negative NR2F1 frameshift mutation and a...

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European Journal of Medical Genetics 2020 / 7

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Walsh, Sonja, Gösswein, Sophie Scarlett, Rump, Andreas, Hagen, Maja von der, Hackmann, Karl, Schröck, Evelin, Di Donato, Nataliya, Kahlert, Anne-Karin
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Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104019
Date:
July, 2020
File:
PDF, 751 KB
2020
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