Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.Q27R
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MTR

NM_000254.3:p.Q27R

Associated Papers

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

Wang C et al.

European Journal of Medical Genetics, 2019

Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools.

Desai M et al.

Systems Biology in Reproductive Medicine, 2019

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.

Wang SJ et al.

Neuropsychiatric Disease and Treatment, 2019

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

Carr DF et al.

The Pharmacogenomics Journal, 2009

The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome.

Biselli JM et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008

Gene-nutrient and gene-gene interactions of controlled folate intake by Japanese women.

Hiraoka M et al.

Biochemical and Biophysical Research Communications, 2004

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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."