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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX2

Variant:p.P221_I224insFs

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PITX2

NM_000325.6:p.P221_I224insFs

hg38:chr4:110618429 A>ATAGAGTTG

Associated Papers

Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld-Rieger syndrome.

Xu J et al.

Acta Biochimica Et Biophysica Sinica, 2025

41074592 (PubMed )

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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."