Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.R478Splc
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ATF6

NM_007348.4:p.R478Splc

Associated Papers

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

Wu S et al.

Ophthalmic Genetics, 2024

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.

Sun W et al.

Molecular Vision, 2020

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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."