Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q10*
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PAX6

NM_001368894.2:p.Q10*

Associated Papers

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2024

Structural brain abnormalities in 12 persons with aniridia.

Grant MK et al.

F1000research, 2017

Assessment of PAX6 alleles in 66 families with aniridia.

Bobilev AM et al.

Clinical Genetics, 2016

Increased functional connectivity in intrinsic neural networks in individuals with aniridia.

Pierce JE et al.

Frontiers in Human Neuroscience, 2014

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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."