Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.C130R
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MTHFR

NM_005957.5:p.C130R

Associated Papers

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Srivastava P et al.

Frontiers in Genetics, 2023

A Glance into MTHFR Deficiency at a Molecular Level.

Savojardo C et al.

International Journal of Molecular Sciences, 2021

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P et al.

Human Mutation, 2015

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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."