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Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene

Gowda Vykuntaraju Kammasandra, Nagarajan Balamurugan, Srinivasan Varunvenkat M, Bhat Maya

Year : 2021| Volume: 16| Issue : 1 | Page no: 75-78

   This article has been cited by
1 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
Zihan Guo, Anyue Gong, Shiguo Liu, Hui Liang
Molecular Genetics and Genomics. 2023;
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