A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans
Rawan Alsafeh, Amal Mohammed Alhashem, Aly Elsayed, Zafer Yüksel, Kalthoum Graies-Tlili, Farah Chedly Thabet, Brahim M. Tabarki
This study identifies a CLASP1 variant in a consanguineous family linked to lissencephaly, showing it disrupts microtubule interactions and contributes to brain development defects.
bioRxiv · Mar 12, 2024 · PreprintGenetics