Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.R418W
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ATAD3A

NM_001170535.3:p.R418W

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s002.xlsx › supplementary_table10_v3.01

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
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