Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.E44fs
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ETHE1

NM_014297.5:p.E44fs

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

Ethylmalonic encephalopathy masquerading as meningococcemia.

Horton A et al.

Cold Spring Harbor Molecular Case Studies, 2022

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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."