Article

Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder

2026-07-23

Abstract excerpt

<title>Abstract</title> <p>Neurodevelopmental disorders are genetically heterogeneous and often remain unresolved despite extensive clinical evaluation and genomic testing. Here, we report a proband with a progressive neurodevelopmental disorder evaluated through the Undiagnosed Diseases Network who harbored heterozygous de novo missense variants in two genes, DCLK1 (p.(S228L)) and SFPQ (p.(P623R)). To determine...

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Literature Corpus work: 60e1b98a-4761-5b14-9803-7f301b627f4e
DOI: 10.21203/rs.3.rs-10425123/v1

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