Associated Papers
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Kashima DT et al.
American Journal of Medical Genetics. Part A, 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
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