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Article

Interpretation of mitochondrial tRNA variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020

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

Abstract excerpt

PURPOSE: To develop criteria to interpret mitochondrial transfer RNA (mt-tRNA) variants based on unique characteristics of mitochondrial genetics and conserved structural/functional properties of tRNA. METHODS: We developed rules on a set of established pathogenic/benign variants by examining heteroplasmy correlations with phenotype, tissue distribution, family members, and among unrelated families from published...

Topics

Humans
Mitochondria
Phenotype
RNA, Mitochondrial
RNA, Transfer

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31965079
DOI: 10.1038/s41436-019-0746-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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