Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.S192fs
Back to variants list

PITX3

NM_005029.4:p.S192fs

Associated Papers

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

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

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Reis LM et al.

Human Genetics, 2019

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

Zazo Seco C et al.

Ophthalmic Genetics, 2018

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Verdin H et al.

Orphanet Journal of Rare Diseases, 2014

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."