Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.G422R
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MTHFR

NM_005957.5:p.G422R

Associated Papers

A Glance into MTHFR Deficiency at a Molecular Level.

Savojardo C et al.

International Journal of Molecular Sciences, 2021

Shifting landscapes of human MTHFR missense-variant effects.

Weile J et al.

American Journal of Human Genetics, 2021

34214447 (PubMed )
Supplement: mmc4.xlsx › 1000_genomes

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-s007.xlsx › Table_S4

The prevalence of folate-remedial MTHFR enzyme variants in humans.

Marini NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics.

Martin YN et al.

Pharmacogenetics and Genomics, 2006

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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."