Varaico: Literature-Extracted Genetic Variants

Gene:ALG3
Variant:p.A65fs
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ALG3

NM_005787.6:p.A65fs

Associated Papers

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

Bian Y et al.

Journal of Human Genetics, 2020

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich N et al.

Human Mutation, 2019

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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."