Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.A203fs
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PITX3

NM_005029.4:p.A203fs

Associated Papers

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

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

Wu Z et al.

Molecular Medicine Reports, 2019

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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."