Associated Papers
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.
Aoki T et al.
Journal of Human Genetics, 2026
Cytokine-Induced Cytotoxicity and Extracellular Matrix Abnormalities in Hepatocytes Derived From RAD50-Interacting Protein 1-Deficient Induced Pluripotent Stem Cells.
Zhang Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency.
Kumar V et al.
Indian Journal of Pediatrics, 2024
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin MA et al.
American Journal of Human Genetics, 2019
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