Open access
Jul 2026
Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder
The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.
Stephen C. Pak, David Butler, Wei-Xi Yuan et al.
· Research Square · 0 citations