Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.G137_L138del2
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PITX2

NM_153427.3:p.G137_L138del2

Associated Papers

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."