Associated Papers
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.
Kart PO et al.
Neurogenetics, 2025
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Mulkey SB et al.
Pediatric Neurology, 2019
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK et al.
American Journal of Medical Genetics. Part A, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L et al.
Molecular Genetics and Metabolism Reports, 2015
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