Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.R58T
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POTEM

NM_001145442.1:p.R58T

Associated Papers

Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression.

Hoskins I et al.

Molecular Systems Biology, 2024

38355921 (PubMed )
Supplement: 44320_2024_18_MOESM5_ESM.zip › MSB-2023-12096_DatasetEV4 › Dataset_EV4.xls › Sheet1

Integrated multiplexed assays of variant effect reveal cis-regulatory determinants of catechol-O-methyltransferase gene expression.

Hoskins I et al.

Biorxiv : the Preprint Server for Biology, 2023

38014045 (PubMed )
Supplement: media-1.xlsx › Table_3

The Relationship between Functional Promoter Variants of Macrophage Migration Inhibitory Factor and Endometriosis.

Chekini Z et al.

Cell Journal, 2021

Association of the genetic variants (-794 CATT5-8 and -173 G > C) of macrophage migration inhibitory factor (MIF) with higher soluble levels of MIF and TNFα in women with breast cancer.

Avalos-Navarro G et al.

Journal of Clinical Laboratory Analysis, 2020

Macrophage migration inhibitory factor polymorphism (rs755622) in alopecia areata: a possible role in disease prevention.

Rajabi F et al.

Archives of Dermatological Research, 2019

Association study of MIF promoter polymorphisms with suicide completers in the Japanese population.

Shimmyo N et al.

Neuropsychiatric Disease and Treatment, 2017

Association between STR -794 CATT5-8 and SNP -173 G/C polymorphisms in the MIF gene and Lepromatous Leprosy in Mestizo patients of western Mexico.

Martinez-Guzman MA et al.

Human Immunology, 2016

Association between Macrophage Migration Inhibitory Factor Gene Variation and Response to Glucocorticoid Treatment in Sudden Sensorineural Hearing Loss.

Yazdani N et al.

Audiology & Neuro-otology, 2015

Association of macrophage migration inhibitory factor gene -173 G/C polymorphism with prognosis in Turkish children with juvenile rheumatoid arthritis.

Berdeli A et al.

Rheumatology International, 2006

Lack of association between MIF gene -173G>C polymorphism with multiple sclerosis.

Cevik B et al.

In Vivo (athens, Greece), 0

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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."