Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q297H
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PITX2

NM_000325.6:p.Q297H

Associated Papers

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Seifi M et al.

Plos One, 2018

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."