Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.G320R
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PRSS56

NM_001195129.2:p.G320R

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

Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.

Paylakhi S et al.

Plos Genetics, 2018

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

Said MB et al.

Gene, 2013

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

Orr A 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."