Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.K159insFs
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PITX3

NM_005029.4:p.K159insFs

Associated Papers

Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract.

Dang H et al.

Journal of Ophthalmology, 2023

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

Berry V et al.

Eye (london, England), 2022

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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."