Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.

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Bibliographic Details
Title: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Authors: Wedge, Eileen1,2,3, eileen.donohue.wedge@regionh.dk, Rasmussen, Andreas Ørslev4, Borgwardt, Line4, Cowland, Jack Bernard1, Grønbæk, Kirsten2,3,5, Issa, Issa Ismail2,3, Friis, Lone Smidstrup2,5, Andersen, Mette Klarskov1, Hvidbjerg, Marie Skov6, Jelsig, Anne Marie1
Source: American Journal of Medical Genetics. Part A; Apr2026, Vol. 200 Issue 4, p959-965, 7p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmga.70015