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Article

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Human mutation - 1 Oct 2020

Wong Lee-Jun C, Chen Ting, Schmitt Eric S, Wang Jing, Tang Sha, Landsverk Megan, Li Fangyuan, Zhang Shulin, Wang Yue, Zhang Victor W, Craigen William J

Abstract excerpt

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...

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PMID: 32652755
DOI: 10.1002/humu.24082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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