Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.A115insFs
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PRSS56

NM_001195129.2:p.A115insFs

Associated Papers

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.

Yu X et al.

Investigative Ophthalmology & Visual Science, 2025

40459495 (PubMed )
Supplement: iovs-66-6-9_s002.pdf

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

Siggs OM et al.

Clinical Genetics, 2020

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.

Guo C et al.

Investigative Ophthalmology & Visual Science, 2019

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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."