Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I156I
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ABCA4

NM_000350.3:p.I156I

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30670881 (PubMed )
Supplement: 41436_2018_420_MOESM1_ESM.xlsx › Table_S1
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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."