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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX2

Variant:p.R99P

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PITX2

NM_153427.3:p.R99P

hg38:chr4:110618645 C>G

Associated Papers

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

Tian Y et al.

Ophthalmic Genetics, 2024

39587444 (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."