Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V521fs
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ABCA4

NM_000350.3:p.V521fs

Associated Papers

Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Zhu Q et al.

Frontiers in Cell and Developmental Biology, 2021

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease.

Dan H et al.

Annals of Human Genetics, 2020

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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."