Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.G219fs
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PITX3

NM_005029.4:p.G219fs

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.

Cvekl A et al.

Cells, 2022

Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress.

Li Y et al.

Frontiers in Cell and Developmental Biology, 2020

Mutation profiles of congenital cataract genes in 21 northern Chinese families.

Zhang XH et al.

Molecular Vision, 2018

Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.

Ye X et al.

International Journal of Clinical and Experimental Medicine, 2015

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.

Berry V et al.

Molecular Vision, 2011

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.

Sorokina EA et al.

Plos One, 2011

Functional analysis of human mutations in homeodomain transcription factor PITX3.

Sakazume S et al.

Bmc Molecular Biology, 2007

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."