Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.A226V
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FOLR1

NM_016729.3:p.A226V

Associated Papers

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Karin I et al.

Journal of Neurology, 2017

Plasma 1-carbon metabolites and academic achievement in 15-yr-old adolescents.

Nilsson TK et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016

Clinical, etiological and therapeutic aspects of cerebral folate deficiency.

Molero-Luis M et al.

Expert Review of Neurotherapeutics, 2015

Folate pathway and nonsyndromic cleft lip and palate.

Blanton SH et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011

Genes involved with folate uptake and distribution and their association with colorectal cancer risk.

Figueiredo JC et al.

Cancer Causes & Control : Ccc, 2010

Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.

Dodelson de Kremer R et al.

Clinical Genetics, 2005

Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia?

Nilsson TK et al.

Clinical Biochemistry, 2004

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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."