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

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...

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Veröffentlicht in:	Genetics in medicine 2023-03, Vol.25 (3), p.100354-100354, Article 100354
Hauptverfasser:	Nelson, Niles, Feurstein, Simone, Niaz, Aram, Truong, Jia, Holien, Jessica K., Lucas, Sionne, Fairfax, Kirsten, Dickinson, Joanne, Bryan, Tracy M.
Format:	Artikel
Sprache:	eng
Schlagworte:	ACMG/AMP criteria Direct telomerase assay Genetic Testing Genetic Variation - genetics Genome, Human Genomics Germline variant curation Humans Telomere - genetics Telomere biology disorder Telomeric repeat amplification protocol
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