Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.H45_F46delFs
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PITX2

NM_153427.3:p.H45_F46delFs

Associated Papers

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

Tian Y et al.

Ophthalmic Genetics, 2024

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

Yin HF et al.

Journal of Zhejiang University. Science. B, 2014

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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."