Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.S27_C32delFs
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SSR4

NM_001204526.1:p.S27_C32delFs

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

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.

Sun W et al.

Frontiers in Genetics, 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."