Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

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DOI:10.1016/j.ajhg.2025.09.015
作者：Laura Planas-Serra,Mar Rodríguez-Ruiz,Eric Nathaniel Anderson,Agustí Rodríguez-Palmero,Valentina Vélez-Santamaria,Agatha Schlüter,Edgard Verdura,Gorka Gere?u,Andrés Jiménez-Zú?iga,Alejandro I?
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Abstract：The ribosomal protein S6 kinase family members play essential biological functions in disease, from cancer to intellectual disability. Little is known about ribosomal proteins S6 kinase C1 (

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