Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.G139insFs
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PITX3

NM_005029.4:p.G139insFs

Associated Papers

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

From eyeless to neurological diseases.

Graw J

Experimental Eye Research, 2017

Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.

Wada K et al.

Plos One, 2014

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.

Rosemann M et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 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."