Varaico: Literature-Extracted Genetic Variants

Gene:EIF4A2
Variant:p.I315_M316del1
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EIF4A2

NM_001967.4:p.I315_M316del1

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

Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Ma K et al.

Cancers, 2022

36291846 (PubMed )
Supplement: cancers-14-05062-s001.zip › Supplementary_Tables.xlsx › Table_S3

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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