Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.E106delFs
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PITX2

NM_000325.6:p.E106delFs

Associated Papers

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Ahmed MR et al.

Genes, 2022

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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."