Germline <i>PARN</i> Variants in Telomere Biology Disorders and Challenges in Variant Curation
The extent to which specific PARN variants can be associated with TBD etiology is limited due to incomplete literature, clinical data, lack of robust functional assays, and high frequency of rare variants.
Authors
- Sharon A. Savage (ORCID: https://orcid.org/0000-0001-6006-0740)
- Ashley S. Thompson (ORCID: https://orcid.org/0000-0003-1663-0317)
- Marena R. Niewisch (ORCID: https://orcid.org/0000-0002-9565-5565)
- Lisa J. McReynolds
- Kelvin C. de Andrade (ORCID: https://orcid.org/0000-0003-4651-996X)
- Mone't B. Thompson
- Hasset T. Nurelegne
Institutions
- National Institutes of Health (US)
- National Cancer Institute (US)
- Department of Health and Human Services (US)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-05-29
- DOI
- https://doi.org/10.1002/mgg3.70107
- Citations
- 1
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- Deutsche Krebshilfe
- National Institutes of Health
- National Cancer Institute
- Division of Cancer Epidemiology and Genetics, National Cancer Institute