Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L373M
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ABCA4

NM_000350.3:p.L373M

Associated Papers

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.

Cevik S et al.

Advances in Experimental Medicine and Biology, 2025

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

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