Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.G512fs
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ATF6

NM_007348.4:p.G512fs

Associated Papers

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

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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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."