Associated Papers
Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch-Boonstra-Schaaf optic atrophy syndrome in a Chinese patient.
Tang S et al.
Frontiers in Medicine, 2025
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Zhang L et al.
Human Genomics, 2020
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