Rare Diseases
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Clinical Profiles of Children With Sickle Cell Anaemia Presenting With Acute Clinical Events: A Single-Center Study. Anwesha Singh et al. Cureus 2023 15(5) e39008 |
Pharmacogenomics of drug-induced liver injury (DILI): Molecular biology to clinical applications. Kaliyaperumal Kalaiyarasi et al. Journal of hepatology 2018 Oct 69(4) 948-957 |
CLINGEN Actionability Report for Adult‑onset type II citrullinemia - SLC25A13 ClinGen Actionability Working Group |