Article

Uncovering functional insights into human pathogenic variants in <i>CDK19</i> using Drosophila models

2025-09-12

Abstract excerpt

Heterozygous missense variants in CDK19 have been found in patients diagnosed with Developmental and epileptic encephalopathy-87 (DEE87) who present with global developmental delay, intellectual disability and other muscular and neurological deficiencies. Two missense variants in CDK19, Y32H and T196A , were first proposed to be dominant negative in nature based on experiments in a Drosophila model. Subsequentl...

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Literature Corpus work: 3aecd713-eaed-5e62-97c7-c094863699e4
DOI: 10.1101/2025.09.10.675453

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