Loss-of-function of Activity-Dependent Neuroprotective Protein (ADNP) by a Splice-Acceptor Site Mutation Causes Helsmoortel–Van Der Aa Syndrome

Claudio Peter D’Incal, Dale John Annear,Ellen Elinck,Jasper J. van der Smagt,Mariëlle Alders,Alexander J. M. Dingemans,Ligia Mateiu,Bert B. A. de Vries,Wim Vanden Berghe,R. Frank Kooy

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Key words
mRNA modification
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