Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL5
Variant:p.C70fs
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ST3GAL5

NM_003896.4:p.C70fs

Associated Papers

When ganglioside pathways go awry: congenital disorders and experimental insights.

Inamori KI et al.

Journal of Human Genetics, 2025

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

Mu D et al.

Orphanet Journal of Rare Diseases, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."