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|Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.|
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American journal of human genetics 50 (4), 852, 1992
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The American Journal of Human Genetics 75 (6), 1079-1093, 2004
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Science translational medicine 4 (118), 118ra10-118ra10, 2012
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The Journal of pediatrics 148 (3), 347-352, 2006
|Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome|
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The American Journal of Human Genetics 87 (1), 52-59, 2010
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Brain 129 (4), 887-898, 2006
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European Journal of Human Genetics 13 (10), 1113-1120, 2005
|Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease|
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The American Journal of Human Genetics 83 (4), 468-478, 2008
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European Journal of Human Genetics 21 (3), 266-273, 2013
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American Journal of Medical Genetics Part A 76 (2), 154-164, 1998
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N Al Hafid, J Christodoulou
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