Associated Papers
Drosophila melanogaster model of RVCL-S demonstrates age dependent disease progression.
Gracheva E et al.
Biorxiv : the Preprint Server for Biology, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.
Shekfeh M et al.
Human Genomics, 2025
40581636 (PubMed )
Supplement: 40246_2025_785_MOESM11_ESM.xlsx › Table_S8
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
DiFrancesco JC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
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