Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R1086C
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TERT

NM_198253.3:p.R1086C

Associated Papers

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.

Alonso-González A et al.

The Lancet. Respiratory Medicine, 2025

40311650 (PubMed )
Supplement: mmc1.pdf

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).

Rolles B et al.

Clinical Immunology (orlando, Fla.), 2023

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Reilly CR et al.

Blood, 2021

PI3K-AKT-mTOR pathway alterations in advanced NSCLC patients after progression on EGFR-TKI and clinical response to EGFR-TKI plus everolimus combination therapy.

Fang W et al.

Translational Lung Cancer Research, 2020

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

Petrovski S et al.

American Journal of Respiratory and Critical Care Medicine, 2017

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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."