Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K54fs
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CDKL5

NM_001323289.2:p.K54fs

Associated Papers

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

Pang N et al.

Gene, 2024

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › ASD_group
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