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Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
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