A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder

European Journal of Human Genetics 2026 Open access

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Authors: Simon Aj, Monica Neustadter-Blackman, Atar Lev, Omri Nayshool, Raizy Kellerman, Fabian Glaser, Shiran Levy, Riham Smoom, Ortal Barel, Amarilla Bernadett Mandola, Miriam Regev, Shachar Naor
+3 more Etai Adam, Yehuda Tzfati, Raz Somech
DOI: 10.1038/s41431-026-02035-8
Cited by: 1
References: 12

Fields of Study & Subjects

Telomeres Telomerase and Senescence Nuclear Structure and Function Acute Myeloid Leukemia Research

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
5
Pages
732–736
Publication date
17 February 2026
Language
EN