Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.A20_G21del1
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ATXN7

NM_001377405.1:p.A20_G21del1

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

41416966 (PubMed )
Supplement: EPI4-11-280-s001.xlsx › TableS2.de_novo_mutations

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2a_-_BCA
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