Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.K58insFs
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SSR4

NM_006280.3:p.K58insFs

Associated Papers

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy.

Li N et al.

Frontiers in Pediatrics, 2025

41210240 (PubMed )
Supplement: Datasheet1.zip › Supplementary_table.xlsx › Sheet1
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