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Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.
Shen MM et al.
Annals of Clinical and Translational Neurology, 2024
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers.
de Miranda NF et al.
The Journal of Pathology, 2009
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
Feldmann J et al.
British Journal of Haematology, 2002
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