Associated Papers
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.
Kaymak D et al.
American Journal of Medical Genetics. Part A, 2023
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2022
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