Varaico: Literature-Extracted Genetic Variants

Gene:WDR36
Variant:p.K150I
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WDR36

NM_139281.3:p.K150I

Associated Papers

WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.

Meer E et al.

Genes, 2021

Glaucoma Pathogenesis and Neurotrophins: Focus on the Molecular and Genetic Basis for Therapeutic Prospects.

Chitranshi N et al.

Current Neuropharmacology, 2018

Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.

Liu K et al.

Medicine, 2017

Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

Guo H et al.

International Journal of Clinical and Experimental Medicine, 2015

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

Genetics of primary open angle glaucoma.

Takamoto M et al.

Japanese Journal of Ophthalmology, 2014

WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.

Blanco-Marchite C et al.

Investigative Ophthalmology & Visual Science, 2011

Complex genetic mechanisms in glaucoma: an overview.

Rao KN et al.

Indian Journal of Ophthalmology, 2011

[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg].

Motushchuk AE et al.

Genetika, 2009

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.

Footz TK et al.

Human Molecular Genetics, 2009

Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.

Fan BJ et al.

Molecular Vision, 2009

Association between MYOC.mt1 promoter polymorphism and risk of primary open-angle glaucoma: a systematic review and meta-analysis.

Liu T et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2008

Profiling of WDR36 missense variants in German patients with glaucoma.

Pasutto F et al.

Investigative Ophthalmology & Visual Science, 2008

Variations in the WDR36 gene in German patients with normal tension glaucoma.

Weisschuh N et al.

Molecular Vision, 2007

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.

Hauser MA et al.

Investigative Ophthalmology & Visual Science, 2006

Molecular diagnostics of genetic eye diseases.

Fan BJ et al.

Clinical Biochemistry, 2006

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Monemi S et al.

Human Molecular Genetics, 2005

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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."