Associated Papers
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G et al.
Journal of Inherited Metabolic Disease, 2023
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F et al.
Molecular Genetics and Metabolism, 2020
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