NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Human Mutation Année : 2022

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

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hal-03861098 , version 1 (19-11-2022)

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Benjamin Billiet, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas, Khadidja Guehlouz, Dan Milea, et al.. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome. Human Mutation, 2022, 43 (2), pp.128-142. ⟨10.1002/humu.24305⟩. ⟨hal-03861098⟩
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