Litcius/Paper detail

Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease

Wan‐Qing Xu, Rou‐Min Wang, Yi Dong, Zhi‐Ying Wu

2022Journal of Molecular Diagnostics18 citationsDOIOpen Access PDF

Topics & Concepts

MinigeneRNA splicingIn silicoBiologyGeneticsPathogenicityDiseaseMutationPhenotypeIntronGeneRNAMedicineInternal medicineMicrobiologyTrace Elements in HealthRNA regulation and diseaseMetabolism and Genetic Disorders