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Article

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2023

Nelson Niles, Feurstein Simone, Niaz Aram, Truong Jia, Holien Jessica K, Lucas Sionne, Fairfax Kirsten, Dickinson Joanne, Bryan Tracy M

Abstract excerpt

PURPOSE: Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations, and they can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatment. Unfortunately, many variants identified during diagnostic testing are variants of uncertain significance. This complicates management decisions, delays treatment, and risks...

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PMID: 36496180
DOI: 10.1016/j.gim.2022.11.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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