Varaico: Literature-Extracted Genetic Variants

Gene:EN1
Variant:p.A218del1
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EN1

NM_001426.4:p.A218del1

Associated Papers

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

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1
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