Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.R113P
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PITX3

NM_005029.4:p.R113P

Associated Papers

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Verdin H et al.

Orphanet Journal of Rare Diseases, 2014

Genetic testing for phenotype-causing variants in sheep and goats.

Lühken G

Molecular and Cellular Probes, 2012

Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.

Becker D et al.

Plos One, 2010

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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."