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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

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Clinical Guidelines and Recommendations EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library

Chapter : Section1
Journal Year : 2020
Cited by : 59.0

… due to differing variant classification algorithms or practices. … from healthy, to having diabetes and sensorineural deafness, … The method has been tested on an Indian ataxia data set (92 …..... Read More

Keywords : ["mitochondrial dna variant interpretation", "acmgamp standard", "specification", "guideline"]
PubMed Link : https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.24107
Google Scholar Link : https://scholar.google.com/scholar?cites=16873074309778559180&as_sdt=5,44&sciodt=0,44&hl=en&num=20