Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y1139D
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ABCA4

NM_000350.3:p.Y1139D

Associated Papers

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C et al.

Genes, 2021

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Piotter E et al.

Frontiers in Genetics, 2021

35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
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