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）

引用 0|浏览21

暂无评分

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要