Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.D223N
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MTHFR

NM_005957.5:p.D223N

Associated Papers

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.

Yin J et al.

Frontiers in Genetics, 2019

31214250 (PubMed )
Supplement: Table_1.XLSX › RUN-_Pathogenic

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Igartua C et al.

Nature Communications, 2015

25591454 (PubMed )
Supplement: NIHMS645116-supplement-1.pdf

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

First Observation of MTH FR 678 C-A (Ala222Ala) Single Nucleotide Polymorphism.

Eğin Y et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

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

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a2780_f40r3

Nucleotide extension genotyping by high-resolution melting.

Liew M et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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

Marini NJ et al.

Plos Genetics, 2010

The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.

Sözen MA et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2009

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

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