Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.V54del1
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MTRR

NM_002454.3:p.V54del1

Associated Papers

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

Impeded electron transfer from a pathogenic FMN domain mutant of methionine synthase reductase and its responsiveness to flavin supplementation.

Gherasim CG et al.

Biochemistry, 2008

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

Moras E et al.

Molecular Genetics and Metabolism, 2007

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

Wilson A et al.

Human Molecular Genetics, 1999

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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."