Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R142H
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TERT

NM_198253.3:p.R142H

Associated Papers

An overview of benefits and risks of chronic melanocortin-1 receptor activation.

Böhm M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.

Spencer Chapman M et al.

Nature Medicine, 2023

37973947 (PubMed )
Supplement: 41591_2023_2636_MOESM1_ESM.pdf

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

Soares de Sá BC et al.

International Journal of Molecular Sciences, 2023

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Zocchi L et al.

Journal of Clinical Medicine, 2021

The Melanocortin 1 receptor and its influence on naevi and melanoma in dark-skinned phenotypes.

Smith DJM

The Australasian Journal of Dermatology, 2019

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

de Unamuno Bustos B et al.

Scientific Reports, 2017

28356599 (PubMed )
Supplement: 41598_2017_606_MOESM2_ESM.xls › Table_S1

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA et al.

Plos One, 2015

Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Udayakumar D et al.

Genome Medicine, 2009

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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."