Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.C292Y
Back to variants list

PRSS56

NM_001195129.2:p.C292Y

Associated Papers

Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort.

Xu Q et al.

Journal of Medical Genetics, 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

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."