Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.W59C
Back to variants list

MTHFR

NM_005957.5:p.W59C

Associated Papers

A Glance into MTHFR Deficiency at a Molecular Level.

Savojardo C et al.

International Journal of Molecular Sciences, 2021

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Massadeh S et al.

Frontiers in Neurology, 2019

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."