Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.K28del1
Back to variants list

PAX6

NM_001368894.2:p.K28del1

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

PAX6 mutations identified in 4 of 35 families with microcornea.

Wang P et al.

Investigative Ophthalmology & Visual Science, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."