Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S6I
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PAX6

NM_001368894.2:p.S6I

Associated Papers

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Zhou R et al.

Iscience, 2022

36117989 (PubMed )
Supplement: mmc5.xlsx › DBD_missense_mutations

A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development.

Bharti K et al.

Plos Genetics, 2012

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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."