Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.C580W
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MTRR

NM_002454.3:p.C580W

Associated Papers

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Huemer M et al.

Journal of Inherited Metabolic Disease, 2015

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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."