Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.E104*
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TH

NM_000360.4:p.E104*

Associated Papers

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

Cozzi A et al.

The Journal of Experimental Medicine, 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."