Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R51Q
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MTHFR

NM_005957.5:p.R51Q

Associated Papers

Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk.

Arrait EM et al.

Current Oncology (toronto, Ont.), 2023

37754498 (PubMed )
Supplement: curroncol-30-00583-s001.zip › curroncol-2432755-supplementary.pdf

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

Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma.

Koh J et al.

Cancers, 2020

32585984 (PubMed )
Supplement: cancers-12-01669-s001.zip › NMZL_Suppletab_Koh_et_al_Cancers_rev.xlsx › Table_S2

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.

Ko J et al.

Yonsei Medical Journal, 2017

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