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Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review
Guo, Zihan; Gong, Anyue; Liu, Shiguo; Liang, Hui.
Molecular Genetics and Genomics; Heidelberg Vol. 298, Iss. 3, (May 2023): 603-614.
DOI:10.1007/s00438-023-02002-8
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