Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L54Q
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PITX2

NM_001204399.1:p.L54Q

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.

Footz T et al.

Investigative Ophthalmology & Visual Science, 2009

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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."