Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.A115fs
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PRSS56

NM_001195129.2:p.A115fs

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

Clinical features of patients with mutations in genes for nanophthalmos.

Li X et al.

The British Journal of Ophthalmology, 2024

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Siggs OM et al.

Clinical Genetics, 2020

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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."