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Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice
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Multidrug-Resistant Salmonella enterica Serovar Rissen Clusters Detected in Azores Archipelago, Portugal
Published 2019-01-01Get full text
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Predicting the impact of missense mutations on an unresolved protein’s stability, structure, and function: A case study of Alzheimer’s disease-associated TREM2 R47H variant
Published 2025-01-01“…We believe that the in-silico mutagenesis methods described here can be applied broadly to evaluate the ever-growing numbers of protein mutations/variants discovered in human genetics study for their potential in diseases, ultimately facilitating personalized medicine.…”
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Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients
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Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
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