Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N1974fs
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ABCA4

NM_000350.3:p.N1974fs

Associated Papers

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer K et al.

Acta Ophthalmologica, 2025

39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
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