Varaico: Literature-Extracted Genetic Variants

Gene:GATB
Variant:p.S194fs
Back to variants list

GATB

NM_004564.3:p.S194fs

Associated Papers

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

Figuccia S et al.

International Journal of Molecular Sciences, 2021

33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf

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

Friederich MW et al.

Nature Communications, 2018

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."