Associated Papers
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Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
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Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
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Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
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