Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation

ABSTRACT Background PARN encodes poly(A)‐specific ribonuclease, a 3 exoribonuclease important in regulating RNA stability and maturation. Rare germline PARN variants have been reported in telomere biology disorders (TBDs) leading to its inclusion on gene panels for bone marrow failure syndromes and...

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Bibliographic Details
Main Authors: Hasset T. Nurelegne, Mone't B. Thompson, Kelvin C. deAndrade, Ashley S. Thompson, Lisa J. McReynolds, Marena R. Niewisch, Sharon A. Savage
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
dyskeratosis congenita
germline variant
PARN
poly(a)‐specific ribonuclease
telomere
telomere biology disorder
Online Access:https://doi.org/10.1002/mgg3.70107
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https://doi.org/10.1002/mgg3.70107

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