Varaico: Literature-Extracted Genetic Variants

Gene:VARS2
Variant:p.H542Y
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VARS2

NM_020442.6:p.H542Y

Associated Papers

Overexpression of human mitochondrial alanyl-tRNA synthetase suppresses biochemical defects of the mt-tRNAAla mutation in cybrids.

Zhao X et al.

International Journal of Biological Sciences, 2018

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances.

Sangatsuda Y et al.

Mitochondrion, 2012

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Rorbach J et al.

Nucleic Acids Research, 2008

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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."