Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.D234N
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MTHFR

NM_005957.5:p.D234N

Associated Papers

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

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

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

The Spectrum of Mutations of Homocystinuria in the MENA Region.

Al-Sadeq DW et al.

Genes, 2020

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

Gan-Schreier H et al.

The Journal of Pediatrics, 2010

Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics.

Martin YN et al.

Pharmacogenetics and Genomics, 2006

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.

De Lucca M et al.

Molecular Genetics and Metabolism, 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."