Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.A23fs
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SSR4

NM_006280.3:p.A23fs

Associated Papers

Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation.

Wang Q et al.

Journal of Human Genetics, 2025

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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."