Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.M1I
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TF

NM_001063.4:p.M1I

Associated Papers

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

Pronicka E et al.

Journal of Applied Genetics, 2011

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

Molecular characterization of a case of atransferrinemia.

Beutler E et al.

Blood, 2000

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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."