Associated Papers
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Nurelegne HT et al.
Molecular Genetics & Genomic Medicine, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S et al.
Blood Advances, 2020
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM et al.
Pediatric Neurology, 2016
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