Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D202delFs
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ABCA4

NM_000350.3:p.D202delFs

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Lee W et al.

Jci Insight, 2022

34874912 (PubMed )
Supplement: jciinsight-7-156154-s173.xlsx › Sheet1
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