Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.P25S
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OPTN

NM_001008212.2:p.P25S

Associated Papers

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I et al.

Orphanet Journal of Rare Diseases, 2012

Myocilin mutations in black South Africans with POAG.

Whigham BT et al.

Molecular Vision, 2011

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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."