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A novel SPINK5 donor splice site variant in a child with Ne..:

Mintoff, Dillon ; Borg, Isabella ; Vornweg, Julia...
Mintoff, D., Borg, I., Vornweg, J., Mercieca, L., Merdzanic, R., Numrich, J., . & Fischer, J. (2021). A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Molecular Genetics & Genomic Medicine, 9(3), e1611..  , 2021