Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.T136I
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ETHE1

NM_014297.5:p.T136I

Associated Papers

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.

Lang SH et al.

Molecular Genetics and Metabolism Reports, 2025

Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.

Gijavanekar C et al.

Current Protocols, 2023

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

Lim J et al.

Journal of Child Neurology, 2021

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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."