Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V170M
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TERT

NM_198253.3:p.V170M

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

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST7_ExWAS

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Telomere-regulating genes and the telomere interactome in familial cancers.

Robles-Espinoza CD et al.

Molecular Cancer Research : Mcr, 2015

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Silhan LL et al.

The European Respiratory Journal, 2014

Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres.

Cantara S et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Parry EM et al.

Blood, 2011

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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."