A novel SPINK5 donor splice site variant in a child with Netherton syndrome,Molecular Genetics & Genomic Medicine

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-02-03 , DOI: 10.1002/mgg3.1611
Dillon Mintoff ₁ , Isabella Borg _{2,

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4} , Julia Vornweg ₅ , Liam Mercieca ₁ , Rijad Merdzanic ₆ , Johannes Numrich ₆ , Susan Aquilina ₁ , Nikolai Paul Pace ₄ , Judith Fischer ₅

Affiliation