Identification of a novel homozygous nonsense variant in a...

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Clinica Chimica Acta 2020 / 5

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review

Tao, Yilun, Han, Dong, Li, Xiyuan, Wang, Lihong, Yue, Lili, Huang, Chenggang, Lu, Dandan, Li, Xiaoze
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Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2020.05.051
Date:
May, 2020
File:
PDF, 407 KB
2020
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