Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K2049fs
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ABCA4

NM_000350.3:p.K2049fs

Associated Papers

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1

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

Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.

Sung YC et al.

Genes, 2020

33261146 (PubMed )
Supplement: genes-11-01421-s001.zip › genes-988879-supplementary.xlsx › Table_S3
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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."