Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.L333V
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MTRR

NM_002454.3:p.L333V

Associated Papers

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

20031640 (PubMed )
Supplement: 841411_supplemental_material.pdf

Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.

Carr DF et al.

The Pharmacogenomics Journal, 2009

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

Moras E et al.

Molecular Genetics and Metabolism, 2007

Genetic aspects of hyperhomocysteinemia in chronic kidney disease.

Sunder-Plassmann G et al.

Seminars in Nephrology, 2006

No evidence for hyperhomocysteinemia or increased prevalence of genetic polymorphisms in the homocysteine pathway in patients with moderate juvenile idiopathic arthritis.

Huemer M et al.

The Journal of Rheumatology, 2005

Methionine synthase reductase MTRR 66A > G has no effect on total homocysteine, folate, and Vitamin B12 concentrations in renal transplant patients.

Feix A et al.

Atherosclerosis, 2004

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."