Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E2134G
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ABCA4

NM_000350.3:p.E2134G

Associated Papers

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

Chacon-Camacho OF et al.

Molecular Genetics and Genomics : Mgg, 2024

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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