Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R473Q
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MTHFR

NM_005957.5:p.R473Q

Associated Papers

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

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

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
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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."