Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R115L
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PITX2

NM_000325.6:p.R115L

Associated Papers

Early-Onset Glaucoma in egl1 Mice Homozygous for Pitx2 Mutation.

Kodati B et al.

Biomedicines, 2022

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Yang Y et al.

Cell Death & Disease, 2021

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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."