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1 Ergebnisse
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Novel dominant-negative NR2F1 frameshift mutation and a phe..:
Walsh, Sonja
;
Gösswein, Sophie Scarlett
;
Rump, Andreas
...
European Journal of Medical Genetics. 63 (2020) 10 - p. 104019 , 2020
Link:
https://doi.org/10.1016/j.ejmg.2020.104019
RT Journal T1
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2020.104019&Exemplar=1&LAN=DE A1 Walsh, Sonja A1 Gösswein, Sophie Scarlett A1 Rump, Andreas A1 von der Hagen, Maja A1 Hackmann, Karl A1 Schröck, Evelin A1 Di Donato, Nataliya A1 Kahlert, Anne-Karin PB Elsevier BV YR 2020 SN 1769-7212 JF European Journal of Medical Genetics VO 63 IS 10 SP 104019 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2020.104019 DO https://doi.org/10.1016/j.ejmg.2020.104019 SF ELIB - SuUB Bremen
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