Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.G861R
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TERT

NM_198253.3:p.G861R

Associated Papers

Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.

Balch S et al.

Nature Communications, 2026

41565648 (PubMed )
Supplement: 41467_2026_68560_MOESM3_ESM.xlsx › Sheet1

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

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Norris K et al.

Human Genetics, 2021

33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.

Dhindsa RS et al.

Communications Biology, 2021

33758299 (PubMed )
Supplement: 42003_2021_1910_MOESM10_ESM.xlsx › Sheet1

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ et al.

Plos One, 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."