Varaico: Literature-Extracted Genetic Variants

Gene:OLFM2
Variant:p.R144Q
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OLFM2

NM_058164.4:p.R144Q

Associated Papers

Coinheritance of OLFM2 and SIX6 variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report.

Yang X et al.

World Journal of Clinical Cases, 2021

Deletion of olfactomedin 2 induces changes in the AMPA receptor complex and impairs visual, olfactory, and motor functions in mice.

Sultana A et al.

Experimental Neurology, 2014

Olfactomedin 2: expression in the eye and interaction with other olfactomedin domain-containing proteins.

Sultana A et al.

Investigative Ophthalmology & Visual Science, 2011

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

Funayama T et al.

Investigative Ophthalmology & Visual Science, 2006

[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].

Yasuda N et al.

Nippon Ganka Gakkai Zasshi, 2006

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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."