Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R122C
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PITX2

NM_000325.6:p.R122C

Associated Papers

Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.

Fan Z et al.

Oral Diseases, 2019

PITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation.

Qiu XB et al.

Clinics (sao Paulo, Brazil), 2014

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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."