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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATF6

Variant:p.S139insFs

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ATF6

NM_007348.4:p.S139insFs

hg38:chr1:161791469 C>CT

Associated Papers

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

Wu S et al.

Ophthalmic Genetics, 2024

38419580 (PubMed )

Macular maldevelopment in ATF6-mediated retinal dysfunction.

Ritter M et al.

Ophthalmic Genetics, 2019

31900015 (PubMed )

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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."