Varaico: Literature-Extracted Genetic Variants

Gene:LARS2
Variant:p.A130T
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LARS2

NM_015340.4:p.A130T

Associated Papers

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Ball M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Neonatal lactic acidosis explained by LARS2 defect.

De Paepe B et al.

Pediatric Research, 2023

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Riley LG et al.

Human Mutation, 2020

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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."