Associated Papers
A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Akçimen F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40751262 (PubMed )
Supplement: MDS-40-2469-s001.xlsx › Supplementary_Table_1
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Shangguan H et al.
Frontiers in Pediatrics, 2022
35935361 (PubMed )
Supplement: Table_1.XLSX › Table_S1
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