Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.M1I
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PITX2

NM_000325.6:p.M1I

Associated Papers

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

Strungaru MH et al.

Investigative Ophthalmology & Visual Science, 2007

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N et al.

Investigative Ophthalmology & Visual Science, 2006

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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."