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Wiley, Human Mutation: Variation, Informatics and Disease, 2(43), p. 128-142, 2021
DOI: 10.1002/humu.24305
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NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
Journal article published in 2021 by
Benjamin Billiet,
Patrizia Amati‐Bonneau,
Valérie Desquiret‐Dumas,
Khadidja Guehlouz,
Dan Milea,
Philippe Gohier,
Guy Lenaers 
,
Delphine Mirebeau‐Prunier,
Johan T. den Dunnen ,
Pascal Reynier ,
Marc Ferré
,
Delphine Mirebeau‐Prunier,
Johan T. den Dunnen ,
Pascal Reynier ,
Marc Ferré
This paper was not found in any repository, but could be made available legally by the author.
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