Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.L418L
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MTHFR

NM_005957.5:p.L418L

Associated Papers

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

37344829 (PubMed )
Supplement: 13073_2023_1192_MOESM1_ESM.xlsx › Sheet2

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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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."