Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.V340fs
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ALG9

NM_024740.2:p.V340fs

Associated Papers

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Kaymak D et al.

American Journal of Medical Genetics. Part A, 2023

ALG9-CDG: New clinical case and review of the literature.

Davis K et al.

Molecular Genetics and Metabolism Reports, 2017

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Tham E et al.

European Journal of Human Genetics : Ejhg, 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."