Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.R376*
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ATF6

NM_007348.4:p.R376*

Associated Papers

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

Wu S et al.

Ophthalmic Genetics, 2024

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

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

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."