Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E470Q
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MTHFR

NM_005957.5:p.E470Q

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

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."