Associated Papers
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ et al.
Jci Insight, 2020
Macular maldevelopment in ATF6-mediated retinal dysfunction.
Ritter M et al.
Ophthalmic Genetics, 2019
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR et al.
Investigative Ophthalmology & Visual Science, 2019
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S et al.
Nature Genetics, 2015
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