Varaico: Literature-Extracted Genetic Variants

Gene:WDR36
Variant:p.A481Splc
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WDR36

NM_139281.3:p.A481Splc

Associated Papers

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

Frezzotti P et al.

The British Journal of Ophthalmology, 2011

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

Fan BJ et al.

Molecular Vision, 2009

Profiling of WDR36 missense variants in German patients with glaucoma.

Pasutto F et al.

Investigative Ophthalmology & Visual Science, 2008

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."