Associated Papers
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A et al.
Journal of Inherited Metabolic Disease, 2022
Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.
Wang X et al.
Frontiers in Pharmacology, 2018
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