Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R91G
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PITX2

NM_000325.6:p.R91G

Associated Papers

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Vetriselvan Y et al.

Biochemical Genetics, 2025

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

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

Axenfeld-Rieger syndrome as rare cause of umbilical abnormality.

Ali Z et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2019

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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."