Review paper
Clinical and laboratory interpretation of mitochondrial mRNA variants
Abstract
Interpretation of mitochondrial protein-encoding (mt-mRNA) variants has been challenging due to mitochondrial characteristics that have not been addressed by American College of Medical Genetics and Genomics guidelines. We developed criteria for the interpretation of mt-mRNA variants via literature review of reported variants, tested and refined these criteria by using our new cases, followed by interpreting 421 novel variants in our clinical...
Paper Details
Title
Clinical and laboratory interpretation of mitochondrial mRNA variants
Published Date
Jul 22, 2020
Journal
Volume
41
Issue
10
Pages
1783 - 1796
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