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REV7 is a remarkably multi-faceted protein with important and separable roles in multiple genome maintenance pathways including Trans-Lesion Synthesis, the Fanconi Anemia pathway, as well as p53 signaling and Double Stranded Break resection. To investigate novel functions and pathways involving REV7...
ORGANISM(S): Homo sapiens (Human) 
2026-01-22 | PXD072142 | Pride
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.
Ataxia telangiectasia and Rad3-related (ATR) kinase and its interacting protein ATRIP orchestrate the replication stress response. Homozygous splice variants in the ATRIP gene, resulting in ATRIP deficiency, were identified in two patients of independent ancestry with microcephaly, primordial dwarfi...
ORGANISM(S): Homo sapiens 
2024-12-19 | GSE284526 | GEO
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