Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.E437*
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DHTKD1

NM_018706.7:p.E437*

Associated Papers

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A et al.

Genes, 2021

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF et al.

Journal of Neurochemistry, 2017

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J et al.

Journal of Inherited Metabolic Disease, 2015

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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."