Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.T599_S600delFs
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CCDC88A

NM_001365480.1:p.T599_S600delFs

Associated Papers

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

Papuc SM et al.

Italian Journal of Pediatrics, 2024

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Issa MY et al.

American Journal of Medical Genetics. Part A, 2024

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