Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.Q511_G512Splc
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ATF6

NM_007348.4:p.Q511_G512Splc

Associated Papers

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.

Ibrahim M et al.

Ophthalmology Science, 2026

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.

Maggi J et al.

International Journal of Molecular Sciences, 2024

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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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."