Varaico: Literature-Extracted Genetic Variants

Gene:STT3A
Variant:p.N544S
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STT3A

NM_152713.5:p.N544S

Associated Papers

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.

Ezell KM et al.

Molecular Genetics and Metabolism Reports, 2024

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