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
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.
Wang J et al.
Frontiers in Genetics, 2022
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