A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

Martins, Mariana ; Oliveira, Ana Rafaela ; Martins, Solange ; Vieira, José Pedro ; Perdigão, Pedro ; Fernandes, Ana Rita ; de Almeida, Luís Pereira ; Palma, Paulo Jorge ; Sequeira, Diana Bela ; Santos, João Miguel Marques ; Duque, Frederico ; Oliveira, Guiomar ; Cardoso, Ana Luísa ; Peça, João ; Seabra, Catarina Morais

International journal of molecular sciences, 2023-08, Vol.24 (16), p.12603 [Periódico revisado por pares]

Basel: MDPI AG

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