Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E1504K
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ABCA4

NM_000350.3:p.E1504K

Associated Papers

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
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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."