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Paper Details

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Hum Mutat
8
2022
Author NameAffiliation
Dan MileaSingapore Eye Research Institute
Johan T den DunnenLeiden University Medical Centre
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Datasets

Release 1.2