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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 |
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| | Zihan Guo, Anyue Gong, Shiguo Liu, Hui Liang | | | Molecular Genetics and Genomics. 2023; | | | [Pubmed] [Google Scholar] [DOI] | |
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