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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
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- Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112
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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3022, doi. 10.1002/ajmg.a.38485
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- Article