Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V2042I
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ABCA4

NM_000350.3:p.V2042I

Associated Papers

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.

Maggi J et al.

International Journal of Molecular Sciences, 2024

39273516 (PubMed )
Supplement: ijms-25-09569-s001.zip › Supplementary_materials › Manuscript_Table_S8.pdf

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2
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