Associated Papers
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Nurelegne HT et al.
Molecular Genetics & Genomic Medicine, 2025
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Molecular genetics of idiopathic pulmonary fibrosis.
Mustafin RN
Vavilovskii Zhurnal Genetiki I Selektsii, 2022
Investigation of telomere related gene mutations in idiopathic pulmonary fibrosis.
Yildirim H et al.
Molecular Biology Reports, 2020
Disruption of Telomerase RNA Maturation Kinetics Precipitates Disease.
Roake CM et al.
Molecular Cell, 2019
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.
Maryoung L et al.
The Journal of Clinical Investigation, 2017
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart BD et al.
Nature Genetics, 2015
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