Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q1513_R1514Splc
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ABCA4

NM_000350.3:p.Q1513_R1514Splc

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM3_ESM.xlsx › Non-coding_variants

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K et al.

Molecular Genetics & Genomic Medicine, 2022

35656873 (PubMed )
Supplement: MGG3-10-e1997-s001.docx
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