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Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107
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- Article
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
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- Journal of Molecular Neuroscience, 2019, v. 69, n. 4, p. 623, doi. 10.1007/s12031-019-01390-0
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- Article