Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.D154E
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ETHE1

NM_014297.5:p.D154E

Associated Papers

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Platt I et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.

Olivieri G et al.

Orphanet Journal of Rare Diseases, 2021

Compromised therapeutic value of pediatric liver transplantation in ethylmalonic encephalopathy: A case report.

Zhou GP et al.

World Journal of Gastroenterology, 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."