Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q255_V256Splc
Back to variants list

PAX6

NM_000280.6:p.Q255_V256Splc

Associated Papers

Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals.

Nguyen HH et al.

Molecular Vision, 2021

[A novel mutation of the PAX6 gene in a Chinese family with aniridia].

Kang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.

Yuan H et al.

Molecular Vision, 2007

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."