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ArticleClinics (Sao Paulo, Brazil)2026

Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.

Ana C Fiorini et al.PubMed ↗Full text ↗Publisher ↗

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Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX. | OpenQuestion