Title: SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Authors: Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek
Journal: International journal of molecular sciences
Publication type: article
DOI: 10.3390/ijms25095008