Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R1084P
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TERT

NM_198253.3:p.R1084P

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

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

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

El-Chemaly S et al.

Frontiers in Immunology, 2018

Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs.

Winkler T et al.

The Journal of Clinical Investigation, 2013

Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation.

El-Chemaly S et al.

Chest, 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."