Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D279fs
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ABCA4

NM_000350.3:p.D279fs

Associated Papers

Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.

Shalom S et al.

Genes, 2024

38790275 (PubMed )
Supplement: genes-15-00646-s001.zip › genes-2989680-supplementary › Supp_Table_S1_-_primers_list.xlsx › ______1

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Cornelis SS et al.

Human Mutation, 2023

40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Glinton SL et al.

Translational Vision Science & Technology, 2022

36178783 (PubMed )
Supplement: tvst-11-9-34_s002.pdf
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