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_s004.pdf

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.

You B et al.

Molecular Vision, 2020

Assessment of PAX6 alleles in 66 families with aniridia.

Bobilev AM et al.

Clinical Genetics, 2016

Genotype-phenotype correlation of PAX6 gene mutations in aniridia.

Yokoi T et al.

Human Genome Variation, 2016

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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."