Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.R247S
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PRSS56

NM_001195129.2:p.R247S

Associated Papers

Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.

Kim M et al.

Korean Journal of Ophthalmology : Kjo, 2024

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.

Jiang D et al.

Molecular Vision, 2013

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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."