Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.C99S
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DOLK

NM_014908.4:p.C99S

Associated Papers

Dolichol kinases from yeast, nematode and human can replace each other and exchange their domains creating active chimeric enzymes in yeast.

Ziogiene D et al.

Plos One, 2024

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

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

Lieu MT et al.

Molecular Genetics and Metabolism, 2013

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

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

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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."