Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R1111fs
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ABCA4

NM_000350.3:p.R1111fs

Associated Papers

Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe TV et al.

Human Mutation, 2021

33942434 (PubMed )
Supplement: HUMU-42-799-s001.xlsx › ABCA4_NCSS

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Sangermano R et al.

Genome Research, 2018

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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."