Associated Papers
Two Novel Pediatric Cases of EIF4A2-Related Disorder With Refractory Infantile Spasms.
Painter J et al.
American Journal of Medical Genetics. Part A, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
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