Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ et al.
Jci Insight, 2020
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
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Xu M et al.
Investigative Ophthalmology & Visual Science, 2015
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