Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.M1T
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DOLK

NM_014908.4:p.M1T

Associated Papers

Phylogenetic analysis of promoter regions of human Dolichol kinase (DOLK) and orthologous genes using bioinformatics tools.

Farooqi N et al.

Open Life Sciences, 2023

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Bastaki F et al.

Annals of Human Genetics, 2018

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

Lieu MT et al.

Molecular Genetics and Metabolism, 2013

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

Helander A et al.

Molecular Genetics and Metabolism, 2013

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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."