Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F2245L
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ABCA4

NM_000350.3:p.F2245L

Associated Papers

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Daich Varela M et al.

Ophthalmology, 2023

37331482 (PubMed )
Supplement: mmc1.pdf
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