Associated Papers
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Werren EA et al.
American Journal of Medical Genetics. Part A, 2023
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E et al.
The Journal of Clinical Investigation, 2021
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