Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.P167insFs
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PITX2

NM_153427.3:p.P167insFs

Associated Papers

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Hernández-Martínez N et al.

Ophthalmic Genetics, 2018

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

D'haene B et al.

Investigative Ophthalmology & Visual Science, 2011

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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."