Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.V360A
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DHTKD1

NM_018706.7:p.V360A

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

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

Leandro J et al.

Acs Chemical Biology, 2020

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy.

Kanwal S et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30284771 (PubMed )
Supplement: jcn-14-591-s001.pdf

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

Sherrill JD et al.

Jci Insight, 2018

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307
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