Associated Papers
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.
Ronzoni R et al.
Human Molecular Genetics, 2016
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