Varaico: Literature-Extracted Genetic Variants

Gene:ACTRT2
Variant:p.K54Q
Back to variants list

ACTRT2

NM_080431.5:p.K54Q

Associated Papers

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW et al.

Nature Communications, 2018

30283131 (PubMed )
Supplement: 41467_2018_6250_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."