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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRSS56

Variant:p.A115fs

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PRSS56

NM_001195129.2:p.A115fs

hg38:chr2:232522057 G>GN

Associated Papers

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

31266062 (PubMed )

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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."