Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L869fs
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ABCA4

NM_000350.3:p.L869fs

Associated Papers

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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