Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.R171L
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ALG3

NM_005787.6:p.R171L

Associated Papers

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.

Alsharhan H et al.

Journal of Inherited Metabolic Disease, 2021

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.

Farolfi M et al.

Bmc Ophthalmology, 2021

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Bian Y et al.

Journal of Human Genetics, 2020

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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."