Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.R163Q
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DHTKD1

NM_018706.7:p.R163Q

Associated Papers

Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.

Nemeria NS et al.

International Journal of Molecular Sciences, 2022

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

Osmanovic A et al.

Genes, 2021

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.

Leandro J et al.

Acs Chemical Biology, 2020

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

Sherrill JD et al.

Jci Insight, 2018

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-s5.xls › VaribenchSelectedPure
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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."