Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S1418Splc
Back to variants list

ABCA4

NM_000350.3:p.S1418Splc

Associated Papers

Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.

Chou HD et al.

Diagnostics (basel, Switzerland), 2023

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

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Stenirri S et al.

Clinical Chemistry, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."