Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R175C
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MTHFR

NM_001330358.2:p.R175C

Associated Papers

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Nejabat M et al.

Frontiers in Pediatrics, 2021

Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Aneji CN et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Marini NJ et al.

Plos Genetics, 2010

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

Methylenetetrahydrofolate reductase haplotype tag single-nucleotide polymorphisms and risk of breast cancer.

Martin YN et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

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."