Functional Genomics for Curation of Variants in Telomere Biology Disorder Associated Genes: A Systematic Review

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

Genetics in Medicine（2023）

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关键词
ACMG/AMP criteria,Direct telomerase assay,Germline variant curation,Telomeric repeat amplification protocol,Telomere biology disorder
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