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Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report |
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| Authors: | Xing-Chen Wang Ting Wang Rui-Han Liu Yan Jiang Dan-Dan Chen Xin-Yu Wang Qing-Xia Kong |
| Abstract: | |
| Keywords: | Adenylosuccinate lyase deficiency Compound heterozygous mutations Epilepsy Pathogenic mutation Case report |
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