Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q47_T48Splc
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PAX6

NM_001368894.2:p.Q47_T48Splc

Associated Papers

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2024

39212610 (PubMed )
Supplement: iovs-65-10-46_s005.xlsx › TableS2-4

Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants.

Huang L et al.

Frontiers in Genetics, 2023

Clinical and molecular aspects of aniridia.

Kokotas H et al.

Clinical Genetics, 2010

Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Chien YH et al.

Molecular Vision, 2009

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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."