Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.M35L
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PITX2

NM_000325.6:p.M35L

Associated Papers

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

Tian Y et al.

Ophthalmic Genetics, 2024

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

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

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

Yang Y et al.

Cell Death & Disease, 2021

34716303 (PubMed )
Supplement: 41419_2021_4331_MOESM2_ESM.xlsx › Sheet1

Novel forms of Paired-like homeodomain transcription factor 2 (PITX2): generation by alternative translation initiation and mRNA splicing.

Lamba P et al.

Bmc Molecular Biology, 2008

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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."