Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.I278T
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MTRR

NM_002454.3:p.I278T

Associated Papers

Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).

Althubity AA

Molecular Medicine Reports, 2026

[Assessment of the role of nutritional and genetic determinants in the formation of the risk of diseases associated with folate cycle disorders in the population of the Omsk region].

Vilms EA et al.

Voprosy Pitaniia, 2023

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.

Kožich V et al.

The Journal of Nutrition, 2020

Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders.

Lintas C

Clinical Genetics, 2019

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Coppedè F

Frontiers in Genetics, 2015

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Karaca M et al.

Gene, 2014

Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?

Santos ME et al.

Molecular Biology Reports, 2011

Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.

Carr DF et al.

The Pharmacogenomics Journal, 2009

Homocysteine and cognitive impairment in Parkinson's disease: a biochemical, neuroimaging, and genetic study.

Rodriguez-Oroz MC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Current perspectives on the genetic causes of neural tube defects.

De Marco P et al.

Neurogenetics, 2006

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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."