Open access
Sep 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.
W. Deb, T. Besnard, F. Desprez et al.
· Molecular Psychiatry · 0 citations
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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.
· Research Square · 0 citations