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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550 -
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ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency