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J. Sheehan

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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.

David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al. · 0 citations

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