Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.M1K
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ETHE1

NM_014297.5:p.M1K

Associated Papers

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Men S et al.

Molecular Genetics & Genomic Medicine, 2023

Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.

Chen X et al.

Frontiers in Genetics, 2020

[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].

Zhang K et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

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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."