Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.M1I
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EPX

NM_000502.6:p.M1I

Associated Papers

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

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

Santos R et al.

Antioxidants & Redox Signaling, 2010

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Maselli RA et al.

Muscle & Nerve, 2003

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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."