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ArticleMolecular biology reports2026

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.

Sina Babaei et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 42606787