Varaico: Literature-Extracted Genetic Variants

Gene:ALG1
Variant:p.F394L
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ALG1

NM_019109.5:p.F394L

Associated Papers

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Xue Y et al.

Molecular Genetics & Genomic Medicine, 2023

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

Öncül Ü et al.

Molecular Syndromology, 2022

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

Lipiński P et al.

Frontiers in Pediatrics, 2021

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

Ng BG et al.

Human Mutation, 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."