Varaico: Literature-Extracted Genetic Variants

Gene:EIF4A2
Variant:p.Q60K
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EIF4A2

NM_001967.4:p.Q60K

Associated Papers

Proteome-wide model for human disease genetics.

Orenbuch R et al.

Nature Genetics, 2025

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders.

Orenbuch R et al.

Research Square, 2024

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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