Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.R415C
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MTRR

NM_002454.3:p.R415C

Associated Papers

Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.

Mäntylä S et al.

Acta Neuropathologica Communications, 2026

41508055 (PubMed )
Supplement: 40478_2025_2209_MOESM6_ESM.xlsx › Sheet1

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.

Kishore A et al.

Human Genetics, 2018

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V et al.

Clinical Epigenetics, 2018

Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2016

Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.

Joslin AC et al.

Genes & Nutrition, 2014

Folate-genetics and colorectal neoplasia: what we know and need to know next.

Figueiredo JC et al.

Molecular Nutrition & Food Research, 2013

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

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

Carr DF et al.

The Pharmacogenomics Journal, 2009

Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.

Steck SE et al.

Journal of Nutrigenetics and Nutrigenomics, 2008

Prognostic significance of folate metabolism polymorphisms for lung cancer.

Matakidou A et al.

British Journal of Cancer, 2007

Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study.

Hazra A et al.

Carcinogenesis, 2007

Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.

Shen M et al.

Lung Cancer (amsterdam, Netherlands), 2005

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

O'Leary VB et al.

Molecular Genetics and Metabolism, 2005

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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."