Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
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Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype;Neurological Sciences;2023-07-17
2. An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant;American Journal of Medical Genetics Part A;2023-03-09
3. A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy;CNS Neuroscience & Therapeutics;2023-01-04
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