Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.C141Y
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ALG1

NM_019109.5:p.C141Y

Associated Papers

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Abu Bakar N et al.

Journal of Inherited Metabolic Disease, 2022

35279850 (PubMed )
Supplement: JIMD-45-769-s001.xlsx › Supplementary_Table_2

Insights into complexity of congenital disorders of glycosylation.

Goreta SS et al.

Biochemia Medica, 2012

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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."