Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.C395R
Back to variants list

PRSS56

NM_001195129.2:p.C395R

Associated Papers

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.

Tao J et al.

Clinical & Experimental Ophthalmology, 2025

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."