Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.D236E
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PAX6

NM_000280.6:p.D236E

Associated Papers

Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene.

Boehm BO et al.

European Journal of Human Genetics : Ejhg, 2023

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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."