Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.I194delFs
Back to variants list

PITX3

NM_005029.4:p.I194delFs

Associated Papers

Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract.

Dang H et al.

Journal of Ophthalmology, 2023

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.

Zhou L et al.

Bmc Ophthalmology, 2022

PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.

Wu Z et al.

Molecular Medicine Reports, 2019

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Q et al.

Bmc Medical Genetics, 2019

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Zazo Seco C et al.

Ophthalmic Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."