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Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations

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Funding

This work was supported financially by Omics-based precision medicine of epilepsy being entrusted by Key Research Project of the Ministry of Science and Technology of China (No. 2016YFC0904400) and the Science and Technology Department Funds of Hunan Province Key Project (No.2016JC2057 to B.X. and No.2018JJ3822 to H.Y.L).

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Correspondence to Hongyu Long or Liming Yang.

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Fang, H., Zhang, L., Xiao, B. et al. Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations. Neurol Sci 41, 465–467 (2020). https://doi.org/10.1007/s10072-019-04049-1

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