Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.S340F
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PRSS56

NM_001195129.2:p.S340F

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

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM5_ESM.xlsx › Sheet1

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Li J et al.

Investigative Ophthalmology & Visual Science, 2015

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."