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Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy
Download from doi.orgLC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders
Download from doi.orgNovel Biallelic CTSD Gene Variants Cause Late‐Onset Ataxia and Retinitis Pigmentosa
Download from onlinelibrary.wiley.comMesenchymal Hamartoma of the Liver and DICER1 Syndrome
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