Associated Papers
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
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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