Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L2
Variant:p.P79L
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EPB41L2

NM_001431.4:p.P79L

Associated Papers

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM et al.

Communications Biology, 2023

36596879 (PubMed )
Supplement: 42003_2022_4323_MOESM7_ESM.xlsx › SData33

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
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