Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N1826S
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ABCA4

NM_000350.3:p.N1826S

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2025

39883546 (PubMed )
Supplement: iovs-66-1-65_s010.xlsx › Sheet1
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