P272: Novel Biallelic Missense Variants in C2orf69 Cause Combined Oxidative Phosphorylation Deficiency Type 53 (COXPD53), Associated with Early-Onset Neurodegeneration and Autoinflammation

Youjin Oh,Grace Yoon,Michael Maier,Bruno Reversade,Jessie Cameron,Susan Blaser,Cynthia Hawkins

Genetics in Medicine Open（2024）

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