Identification of a Novel ST3GAL5 Variant in a Chinese Boy with GM3 Synthase Deficiency and Literature Review of Variants in the ST3GAL5 Gene
Orphanet Journal of Rare Diseases（2024）
Key words
Compound heterozygous variations,GM3 synthase deficiency,Gangliosides,ST3GAL5 gene,Trio-whole exome sequencing
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