GeneticsbioRxivPreprint
A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans
Rawan Alsafeh, Amal Mohammed Alhashem, Aly Elsayed…·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.
DOI 10.1101/2024.03.12.584685