Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S4Splc
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PAX6

NM_001368894.2:p.S4Splc

Associated Papers

Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.

Wang Z et al.

Experimental and Therapeutic Medicine, 2019

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.

Park SH et al.

Molecular Vision, 2012

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Zhang X et al.

Eye (london, England), 2011

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

Yuan H et al.

Molecular Vision, 2007

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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."