Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Phylogenetic analysis of promoter regions of human Dolichol kinase (DOLK) and orthologous genes using bioinformatics tools.
Farooqi N et al.
Open Life Sciences, 2023
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Rush ET et al.
American Journal of Medical Genetics. Part A, 2017
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Kapusta L et al.
Heart Failure Reviews, 2013
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ et al.
Plos Genetics, 2011
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Kranz C et al.
American Journal of Human Genetics, 2007
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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