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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SSR4

Variant:p.P33delFs

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SSR4

NM_006280.3:p.P33delFs

hg38:chrX:153796460 AC>A

Associated Papers

Multi-Omics Characterization of a Novel SSR4 Variant in Congenital Disorders of Glycosylation.

Abu Bakar N et al.

Metabolites, 2025

41441028 (PubMed )

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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."