Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P1510L
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ABCA4

NM_000350.3:p.P1510L

Associated Papers

Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.

Yaylacioğlu Tuncay F et al.

Turkish Journal of Medical Sciences, 2025

41234456 (PubMed )
Supplement: Supplementary._Table_2.xlsx › Sayfa1

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.pdf
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