Varaico: Literature-Extracted Genetic Variants

Gene:EPS15
Variant:p.T217_W218Splc
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EPS15

NM_001981.3:p.T217_W218Splc

Associated Papers

From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites.

Vořechovský I

Journal of Human Genetics, 2025

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