Associated Papers
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG et al.
Human Molecular Genetics, 2022
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