Varaico: Literature-Extracted Genetic Variants

Gene:ALG8
Variant:p.S252P
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ALG8

NM_024079.5:p.S252P

Associated Papers

ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.

Huang Y et al.

Qjm : Monthly Journal of the Association of Physicians, 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."