Associated Papers
EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.
Prasun P et al.
Molecular Syndromology, 2024
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
Guo R et al.
American Journal of Medical Genetics. Part A, 2023
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME et al.
Journal of Human Genetics, 2023
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.
Ganz J et al.
Cancer Discovery, 2022
34389641 (PubMed )
Supplement: cd-21-0245_table_s2_suppst2.xlsx › GTEx_filtered_variants__B_
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Nabais Sá MJ et al.
Human Molecular Genetics, 2021
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