Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.G32S
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PITX3

NM_005029.4:p.G32S

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

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

The transcription factor Pitx3 is a risk modifier for Parkinson's disease in a Chinese Han population.

Yu LH et al.

European Journal of Neurology, 2011

Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.

de Mena L et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

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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."