Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.H74L
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ALG1

NM_019109.5:p.H74L

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Dang Do AN et al.

Journal of Inherited Metabolic Disease, 2023

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Öncül Ü et al.

Molecular Syndromology, 2022

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG et al.

Human Mutation, 2016

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Zhang W et al.

Clinical Chemistry, 2016

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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."